chr1|1167629|1170421|ENSG00000176022.3|ENSG00000176022.3|B3GALT6|B3GALT6|Confirmed DD Gene|Biallelic|Loss of function|spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1)|13568|271640|23664117|HP:0000007 ;HP:0000156 ;HP:0000175 ;HP:0000272 ;HP:0000300 ;HP:0000343 ;HP:0000470 ;HP:0000520 ;HP:0000592 ;HP:0000878 ;HP:0000887 ;HP:0000904 ;HP:0000974 ;HP:0001027 ;HP:0001083 ;HP:0001252 ;HP:0001388 ;HP:0001547 ;HP:0001597 ;HP:0001629 ;HP:0001631 ;HP:0001647 ;HP:0001653 ;HP:0001762 ;HP:0001763 ;HP:0001822 ;HP:0001840 ;HP:0002176 ;HP:0002651 ;HP:0002673 ;HP:0002751 ;HP:0002827 ;HP:0002857 ;HP:0002986 ;HP:0003016 ;HP:0003026 ;HP:0003048 ;HP:0003083 ;HP:0003100 ;HP:0003300 ;HP:0003301 ;HP:0003421 ;HP:0003510 ;HP:0008012 ;HP:0008818 ;HP:0008824 ;HP:0009836 ;HP:0010049 ;HP:0010550 ;HP:0100864
chr1|1167629|1170421|ENSG00000176022.3|ENSG00000176022.3|B3GALT6|B3GALT6|Confirmed DD Gene|Biallelic|Loss of function|Ehlers-Danlos syndrome (progeroid form)|13570|130070||HP:0000007 ;HP:0000160 ;HP:0000193 ;HP:0000256 ;HP:0000274 ;HP:0000431 ;HP:0000520 ;HP:0000774 ;HP:0000894 ;HP:0000938 ;HP:0000954 ;HP:0001075 ;HP:0001166 ;HP:0001252 ;HP:0001263 ;HP:0001388 ;HP:0001508 ;HP:0001763 ;HP:0001939 ;HP:0002209 ;HP:0002673 ;HP:0002974 ;HP:0004322 ;HP:0007469 ;HP:0009906 ;HP:0200091
chr1|2160134|2241558|ENSG00000157933.9|ENSG00000157933.9|SKI|SKI|Confirmed DD Gene|Monoallelic|All missense/in frame|SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS|13433|182212||HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000156 ;HP:0000238 ;HP:0000252 ;HP:0000260 ;HP:0000268 ;HP:0000316 ;HP:0000327 ;HP:0000347 ;HP:0000368 ;HP:0000377 ;HP:0000405 ;HP:0000463 ;HP:0000486 ;HP:0000494 ;HP:0000506 ;HP:0000508 ;HP:0000545 ;HP:0000586 ;HP:0000689 ;HP:0000767 ;HP:0000768 ;HP:0000883 ;HP:0000895 ;HP:0000938 ;HP:0000974 ;HP:0001166 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001363 ;HP:0001388 ;HP:0001537 ;HP:0001634 ;HP:0001724 ;HP:0001762 ;HP:0001763 ;HP:0001840 ;HP:0002007 ;HP:0002020 ;HP:0002650 ;HP:0002816 ;HP:0002857 ;HP:0002870 ;HP:0002970 ;HP:0003016 ;HP:0003083 ;HP:0003717 ;HP:0003745 ;HP:0005815 ;HP:0007099 ;HP:0008440 ;HP:0008872 ;HP:0009023 ;HP:0009473
chr1|2336236|2345236|ENSG00000157911.5|ENSG00000157911.5|PEX10|PEX10|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 7 (PBD-CG7)|10476|602859||
chr1|2336236|2345236|ENSG00000157911.5|ENSG00000157911.5|PEX10|PEX10|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10606|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr1|2336236|2345236|ENSG00000157911.5|ENSG00000157911.5|PEX10|PEX10|Confirmed DD Gene|Biallelic|Loss of function|adrenoleukodystrophy neonatal (NALD)|10607|202370||HP:0000007 ;HP:0000218 ;HP:0000268 ;HP:0000286 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000565 ;HP:0000846 ;HP:0001249 ;HP:0001250 ;HP:0001999 ;HP:0002007 ;HP:0003455 ;HP:0010696
chr1|5922871|6052533|ENSG00000131697.13|ENSG00000131697.13|NPHP4|NPHP4|Confirmed DD Gene|Biallelic|Loss of function|nephronophthisis type 4 (NPHP4)|10919|606966|12244321|HP:0000007 ;HP:0000090 ;HP:0000092 ;HP:0000103 ;HP:0000108 ;HP:0001510 ;HP:0001903 ;HP:0001959 ;HP:0003774 ;HP:0005576
chr1|6484848|6521430|ENSG00000187017.10|ENSG00000187017.10|ESPN|ESPN|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 36 with or without vestibular involvement|10979|609006|18973245 ;15930085 ;15286153|HP:0000007 ;HP:0000407 ;HP:0008568
chr1|6845384|7829766|ENSG00000171735.14|ENSG00000171735.14|CAMTA1|CAMTA1|Probable DD gene|Monoallelic|Loss of function|Cerebellar ataxia, nonprogressive, with mental retardation|13626|614756|22693284|HP:0000006 ;HP:0000160 ;HP:0000179 ;HP:0000276 ;HP:0000307 ;HP:0000343 ;HP:0000414 ;HP:0000463 ;HP:0000486 ;HP:0000750 ;HP:0001251 ;HP:0001256 ;HP:0001260 ;HP:0001263 ;HP:0001319 ;HP:0001321 ;HP:0002003 ;HP:0002317 ;HP:0100540
chr1|10003486|10045559|ENSG00000173614.9|ENSG00000173614.9|NMNAT1|NMNAT1|Confirmed DD Gene|Biallelic|Loss of function|Leber congenital amaurosis|13406|608553|22842227 ;12734549 ;22842230|HP:0000007 ;HP:0000540 ;HP:0000543 ;HP:0000613 ;HP:0000639 ;HP:0000648 ;HP:0000662 ;HP:0001116 ;HP:0007843
chr1|10532345|10690815|ENSG00000142655.8|ENSG00000142655.8|PEX14|PEX14|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group K (PBD-CGK)|10860|601791||
chr1|10532345|10690815|ENSG00000142655.8|ENSG00000142655.8|PEX14|PEX14|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10861|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr1|11166592|11322564|ENSG00000198793.8|ENSG00000198793.8|MTOR|MTOR|Possible DD Gene|Mosaic|All missense/in frame|Hemimegalencephaly MTOR|13384|||
chr1|11166592|11322564|ENSG00000198793.8|ENSG00000198793.8|MTOR|MTOR|Possible DD Gene|Monoallelic|All missense/in frame|Epileptic encephalopathy|13611||23934111|
chr1|11845780|11866977|ENSG00000177000.6|ENSG00000177000.6|MTHFR|MTHFR|Both DD and IF|Biallelic|Loss of function|methylenetetrahydrofolate reductase deficiency (MTHFRD)|10453|236250||HP:0000007 ;HP:0000252 ;HP:0000708 ;HP:0001250 ;HP:0001263 ;HP:0001288 ;HP:0001297 ;HP:0001324 ;HP:0002156 ;HP:0002160 ;HP:0002311 ;HP:0003401
chr1|11994262|12035595|ENSG00000083444.12|ENSG00000083444.12|PLOD1|PLOD1|Confirmed DD Gene|Biallelic|Loss of function|Ehlers-Danlos Syndrome, Kyphoscoliotic Form|12859|225400|8163671 ;1345174 ;5016372 ;9450904|HP:0000007 ;HP:0000015 ;HP:0000023 ;HP:0000098 ;HP:0000286 ;HP:0000482 ;HP:0000501 ;HP:0000541 ;HP:0000545 ;HP:0000563 ;HP:0000592 ;HP:0000618 ;HP:0000678 ;HP:0000939 ;HP:0000974 ;HP:0000978 ;HP:0000993 ;HP:0001020 ;HP:0001166 ;HP:0001252 ;HP:0001270 ;HP:0001373 ;HP:0001388 ;HP:0001519 ;HP:0001558 ;HP:0001635 ;HP:0001762 ;HP:0001763 ;HP:0001788 ;HP:0001939 ;HP:0002093 ;HP:0002239 ;HP:0002808 ;HP:0005280 ;HP:0005952 ;HP:0006532 ;HP:0007517 ;HP:0008458
chr1|16345370|16360545|ENSG00000186510.7|ENSG00000186510.7|CLCNKA|CLCNKA|Possible DD Gene|Biallelic|Loss of function|Bartter syndrome type 4B|10971|613090||HP:0000083 ;HP:0000103 ;HP:0000127 ;HP:0000407 ;HP:0000859 ;HP:0000969 ;HP:0001249 ;HP:0001252 ;HP:0001265 ;HP:0001270 ;HP:0001425 ;HP:0001508 ;HP:0001561 ;HP:0001563 ;HP:0001622 ;HP:0002900 ;HP:0002902 ;HP:0002914 ;HP:0003081 ;HP:0003113 ;HP:0003577 ;HP:0003608 ;HP:0004909 ;HP:0012213
chr1|16370272|16383803|ENSG00000184908.13|ENSG00000184908.13|CLCNKB|CLCNKB|Probable DD gene|Biallelic|Loss of function|Bartter syndrome type 4B|10972|613090|18310267 ;15044642|HP:0000083 ;HP:0000103 ;HP:0000127 ;HP:0000407 ;HP:0000859 ;HP:0000969 ;HP:0001249 ;HP:0001252 ;HP:0001265 ;HP:0001270 ;HP:0001425 ;HP:0001508 ;HP:0001561 ;HP:0001563 ;HP:0001622 ;HP:0002900 ;HP:0002902 ;HP:0002914 ;HP:0003081 ;HP:0003113 ;HP:0003577 ;HP:0003608 ;HP:0004909 ;HP:0012213
chr1|17312453|17338423|ENSG00000159363.13|ENSG00000159363.13|ATP13A2|ATP13A2|Both DD and IF|Biallelic|Loss of function|Parkinson disease 9|10792|606693||HP:0000007 ;HP:0000298 ;HP:0000458 ;HP:0000514 ;HP:0000605 ;HP:0000718 ;HP:0000725 ;HP:0000726 ;HP:0000738 ;HP:0001257 ;HP:0001300 ;HP:0001332 ;HP:0001336 ;HP:0001347 ;HP:0002063 ;HP:0002172 ;HP:0002304 ;HP:0002375 ;HP:0002385 ;HP:0002425 ;HP:0002548 ;HP:0003487 ;HP:0003678 ;HP:0004409
chr1|19197926|19229275|ENSG00000159423.12|ENSG00000159423.12|ALDH4A1|ALDH4A1|Confirmed DD Gene|Biallelic|Loss of function|hyperprolinemia type 2 (HP-2)|10324|239510|9700195|HP:0000007 ;HP:0001249 ;HP:0001250 ;HP:0003080 ;HP:0003108 ;HP:0003137 ;HP:0008358
chr1|20978270|20988000|ENSG00000244038.5|ENSG00000244038.5|DDOST|DDOST|Confirmed DD Gene|Biallelic|Loss of function|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R|10703|614507|22305527|HP:0000007 ;HP:0000486 ;HP:0001263 ;HP:0001410 ;HP:0001508 ;HP:0002019 ;HP:0002020 ;HP:0003593 ;HP:0003642
chr1|21835858|21904905|ENSG00000162551.9|ENSG00000162551.9|ALPL|ALPL|Confirmed DD Gene|Biallelic|All missense/in frame|Hypophosphatasia|11802|241500|3174660|HP:0000007 ;HP:0000121 ;HP:0000164 ;HP:0000592 ;HP:0000737 ;HP:0000773 ;HP:0000897 ;HP:0000926 ;HP:0001024 ;HP:0001250 ;HP:0001252 ;HP:0001363 ;HP:0001508 ;HP:0001522 ;HP:0001561 ;HP:0001608 ;HP:0001903 ;HP:0001945 ;HP:0002013 ;HP:0002019 ;HP:0002039 ;HP:0002104 ;HP:0002150 ;HP:0002170 ;HP:0002205 ;HP:0002659 ;HP:0002979 ;HP:0002983 ;HP:0003021 ;HP:0003072 ;HP:0003239 ;HP:0003491 ;HP:0003826 ;HP:0004492 ;HP:0004606 ;HP:0005474 ;HP:0006385 ;HP:0008428 ;HP:0008873 ;HP:0011864
chr1|22148738|22263790|ENSG00000142798.12|ENSG00000142798.12|HSPG2|HSPG2|Confirmed DD Gene|Biallelic|Loss of function|Schwartz-Jampel syndrome (SJS1)|10921|255800|11941538 ;11101850|HP:0000007 ;HP:0000023 ;HP:0000160 ;HP:0000205 ;HP:0000272 ;HP:0000293 ;HP:0000347 ;HP:0000369 ;HP:0000396 ;HP:0000470 ;HP:0000482 ;HP:0000508 ;HP:0000518 ;HP:0000545 ;HP:0000581 ;HP:0000768 ;HP:0000926 ;HP:0000939 ;HP:0001239 ;HP:0001249 ;HP:0001265 ;HP:0001324 ;HP:0001374 ;HP:0001537 ;HP:0001620 ;HP:0001621 ;HP:0001762 ;HP:0001763 ;HP:0002047 ;HP:0002230 ;HP:0002486 ;HP:0002673 ;HP:0002750 ;HP:0002751 ;HP:0002812 ;HP:0002938 ;HP:0003016 ;HP:0003044 ;HP:0003202 ;HP:0003273 ;HP:0003417 ;HP:0003712 ;HP:0004322 ;HP:0005830 ;HP:0006473 ;HP:0006499 ;HP:0007740 ;HP:0008734
chr1|22148738|22263790|ENSG00000142798.12|ENSG00000142798.12|HSPG2|HSPG2|Confirmed DD Gene|Biallelic|Loss of function|dyssegmental dysplasia Silverman-Handmaker type (DDSH)|10922|224410|11279527|HP:0000007 ;HP:0000028 ;HP:0000160 ;HP:0000272 ;HP:0000347 ;HP:0000358 ;HP:0000431 ;HP:0001362 ;HP:0001548 ;HP:0001762 ;HP:0002089 ;HP:0002879 ;HP:0003026 ;HP:0003026 ;HP:0003811 ;HP:0004298 ;HP:0005257 ;HP:0006487 ;HP:0008873
chr1|22443798|22470462|ENSG00000162552.10|ENSG00000162552.10|WNT4|WNT4|Probable DD gene|Biallelic|All missense/in frame|SERKAL syndrome	|11704|611812|18179883|HP:0000007 ;HP:0000104 ;HP:0005944 ;HP:0011743 ;HP:0012245
chr1|22443798|22470462|ENSG00000162552.10|ENSG00000162552.10|WNT4|WNT4|Probable DD gene|Monoallelic|All missense/in frame|Mullerian aplasia and hyperandrogenism	|11705|158330|15317892|HP:0000006 ;HP:0000122 ;HP:0000141 ;HP:0000151 ;HP:0001007 ;HP:0001061 ;HP:0003250 ;HP:0008655
chr1|22778344|22857650|ENSG00000184677.12|ENSG00000184677.12|ZBTB40|ZBTB40|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10046||21937992|
chr1|24122089|24127271|ENSG00000117308.10|ENSG00000117308.10|GALE|GALE|Confirmed DD Gene|Biallelic|Loss of function|epimerase-deficiency galactosemia (EDG)|10398|230350|9538513 ;9326324 ;9973283|HP:0000007 ;HP:0000407 ;HP:0000750 ;HP:0000952 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001508 ;HP:0001744 ;HP:0002013 ;HP:0002194 ;HP:0002240 ;HP:0003355 ;HP:0012023 ;HP:0012024
chr1|24128375|24165110|ENSG00000117305.10|ENSG00000117305.10|HMGCL|HMGCL|Confirmed DD Gene|Biallelic|Loss of function|3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency|12428|246450|9463337 ;11129331 ;8617516|HP:0000007 ;HP:0001259 ;HP:0001262 ;HP:0001942 ;HP:0001943 ;HP:0001945 ;HP:0001987 ;HP:0001992 ;HP:0002240 ;HP:0003150 ;HP:0003344 ;HP:0003819
chr1|24171567|24194784|ENSG00000179163.11|ENSG00000179163.11|FUCA1|FUCA1|Confirmed DD Gene|Biallelic|Loss of function|fucosidosis (FUCA1D)|10845|230000|9762612 ;2642067 ;8401503 ;2012122 ;8097260 ;1281988|HP:0000007 ;HP:0000158 ;HP:0000179 ;HP:0000280 ;HP:0000316 ;HP:0000365 ;HP:0000445 ;HP:0000503 ;HP:0000574 ;HP:0000943 ;HP:0000958 ;HP:0000970 ;HP:0001014 ;HP:0001249 ;HP:0001250 ;HP:0001271 ;HP:0001371 ;HP:0001552 ;HP:0001640 ;HP:0001744 ;HP:0001922 ;HP:0002007 ;HP:0002059 ;HP:0002205 ;HP:0002240 ;HP:0002510 ;HP:0002650 ;HP:0002673 ;HP:0002938 ;HP:0004298 ;HP:0004322 ;HP:0004558 ;HP:0004630 ;HP:0005453 ;HP:0008430 ;HP:0008436 ;HP:0010471 ;HP:0011220 ;HP:0012236 ;HP:0100790
chr1|24645812|24690972|ENSG00000158055.11|ENSG00000158055.11|GRHL3|GRHL3|Confirmed DD Gene|Monoallelic|Loss of function|Van der Woude Syndrome|13687||24360809 |
chr1|26503894|26516377|ENSG00000142675.13|ENSG00000142675.13|CNKSR1|CNKSR1|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10013||21937992|
chr1|27022524|27108595|ENSG00000117713.13|ENSG00000117713.13|ARID1A|ARID1A|Confirmed DD Gene|Monoallelic|Loss of function|COFFIN-SIRIS SYNDROME; CSS|11185|135900||HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000086 ;HP:0000089 ;HP:0000126 ;HP:0000151 ;HP:0000154 ;HP:0000156 ;HP:0000175 ;HP:0000179 ;HP:0000252 ;HP:0000280 ;HP:0000365 ;HP:0000384 ;HP:0000453 ;HP:0000455 ;HP:0000483 ;HP:0000486 ;HP:0000508 ;HP:0000527 ;HP:0000545 ;HP:0000574 ;HP:0000601 ;HP:0000639 ;HP:0000684 ;HP:0000718 ;HP:0000729 ;HP:0000776 ;HP:0000879 ;HP:0000954 ;HP:0000960 ;HP:0000965 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001305 ;HP:0001338 ;HP:0001388 ;HP:0001511 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001643 ;HP:0002079 ;HP:0002205 ;HP:0002209 ;HP:0002219 ;HP:0002566 ;HP:0002576 ;HP:0002588 ;HP:0002592 ;HP:0002650 ;HP:0002673 ;HP:0002750 ;HP:0002808 ;HP:0003083 ;HP:0003298 ;HP:0004227 ;HP:0004322 ;HP:0005280 ;HP:0006498 ;HP:0006863 ;HP:0008398 ;HP:0008872 ;HP:0008897 ;HP:0009747 ;HP:0100391
chr1|27113963|27124889|ENSG00000060642.6|ENSG00000060642.6|PIGV|PIGV|Confirmed DD Gene|Biallelic|All missense/in frame|hyperphosphatasia with mental retardation (HPMR)|11272|239300|20802478 ;17351347|HP:0000007 ;HP:0000175 ;HP:0000204 ;HP:0000219 ;HP:0000238 ;HP:0000272 ;HP:0000303 ;HP:0000316 ;HP:0000322 ;HP:0000358 ;HP:0000407 ;HP:0000431 ;HP:0000455 ;HP:0000582 ;HP:0000637 ;HP:0001090 ;HP:0001182 ;HP:0001216 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001344 ;HP:0001357 ;HP:0001545 ;HP:0001792 ;HP:0001831 ;HP:0002019 ;HP:0002251 ;HP:0002553 ;HP:0002714 ;HP:0003155 ;HP:0009882 ;HP:0010804 ;HP:0010864
chr1|27860546|27930942|ENSG00000126705.9|ENSG00000126705.9|AHDC1|AHDC1|Confirmed DD Gene|Monoallelic|Loss of function|Xia-Gibbs syndrome	|13738|615829|24791903|
chr1|33473585|33546597|ENSG00000004455.12|ENSG00000004455.12|AK2|AK2|Confirmed DD Gene|Biallelic|Loss of function|Reticular dysgenesis|10809|267500|19043416 ;19043417|HP:0000007 ;HP:0000777 ;HP:0001882 ;HP:0001888 ;HP:0005354 ;HP:0005541
chr1|35246790|35251970|ENSG00000188910.7|ENSG00000188910.7|GJB3|GJB3|Both DD and IF|Monoallelic|Loss of function|deafness autosomal dominant type 2B|10985|612644||HP:0000006 ;HP:0005101
chr1|35246790|35251970|ENSG00000188910.7|ENSG00000188910.7|GJB3|GJB3|Both DD and IF|Both|Loss of function|Deafness, autosomal recessive	|11106|||
chr1|35246790|35251970|ENSG00000188910.7|ENSG00000188910.7|GJB3|GJB3|Both DD and IF|Monoallelic|All missense/in frame|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA|10215|133200||HP:0000006 ;HP:0000007 ;HP:0003593 ;HP:0005588 ;HP:0005595 ;HP:0010783
chr1|35447134|35497342|ENSG00000271741.1|ENSG00000271741.1|ZMYM6|ZMYM6|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13617|||
chr1|38000050|38019903|ENSG00000163877.9|ENSG00000163877.9|SNIP1|SNIP1|Possible DD Gene|Biallelic|All missense/in frame|Symptomatic epilepsy and skull dysplasia|13450|614501|22279524|HP:0000007 ;HP:0000154 ;HP:0000158 ;HP:0000414 ;HP:0000486 ;HP:0000666 ;HP:0001182 ;HP:0001250 ;HP:0001263 ;HP:0001265 ;HP:0001607 ;HP:0001647 ;HP:0001650 ;HP:0002119 ;HP:0002319 ;HP:0002353 ;HP:0003429 ;HP:0004279 ;HP:0011304 ;HP:0011968
chr1|38275239|38325292|ENSG00000188786.9|ENSG00000188786.9|MTF1|MTF1|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13616|||
chr1|40538379|40563375|ENSG00000131238.12|ENSG00000131238.12|PPT1|PPT1|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 1 (CLN1)|10870|256730]||
chr1|40723779|40759856|ENSG00000084073.4|ENSG00000084073.4|ZMPSTE24|ZMPSTE24|Confirmed DD Gene|Biallelic|Loss of function|Lethal Restrictive Dermopathy, ZMPSTE24-Related|13361|319186||
chr1|40723779|40759856|ENSG00000084073.4|ENSG00000084073.4|ZMPSTE24|ZMPSTE24|Confirmed DD Gene|Biallelic|Loss of function|mandibuloacral dysplasia with type B lipodystrophy|13362|608612||HP:0000007 ;HP:0000160 ;HP:0000270 ;HP:0000292 ;HP:0000320 ;HP:0000347 ;HP:0000418 ;HP:0000464 ;HP:0000520 ;HP:0000678 ;HP:0000831 ;HP:0000833 ;HP:0000842 ;HP:0000894 ;HP:0000905 ;HP:0001070 ;HP:0001371 ;HP:0001870 ;HP:0002299 ;HP:0003074 ;HP:0003077 ;HP:0003635 ;HP:0004334 ;HP:0005995 ;HP:0006480 ;HP:0008070 ;HP:0009002 ;HP:0009064 ;HP:0009803 ;HP:0009839
chr1|40766159|40783488|ENSG00000049089.9|ENSG00000049089.9|COL9A2|COL9A2|Confirmed DD Gene|Monoallelic|Dominant negative|multiple epiphyseal dysplasia type 2 (EDM2)|10257|600204|12244547 ;10364514 ;8528240|HP:0000006 ;HP:0002515 ;HP:0002656 ;HP:0002970 ;HP:0003071 ;HP:0003502 ;HP:0004279 ;HP:0005086 ;HP:0010582
chr1|40766159|40783488|ENSG00000049089.9|ENSG00000049089.9|COL9A2|COL9A2|Confirmed DD Gene|Biallelic|Loss of function|Stickler syndrome, type V	|11189|614284|21671392|HP:0000007 ;HP:0000541 ;HP:0000655 ;HP:0011003
chr1|43198764|43205925|ENSG00000164007.6|ENSG00000164007.6|CLDN19|CLDN19|Confirmed DD Gene|Biallelic|Uncertain|HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5|11379|248190|17033971; 17033971|HP:0000007 ;HP:0000010 ;HP:0000106 ;HP:0000121 ;HP:0000545 ;HP:0000547 ;HP:0000639 ;HP:0000787 ;HP:0001116 ;HP:0002150 ;HP:0002917 ;HP:0005567
chr1|43212006|43232755|ENSG00000117385.11|ENSG00000117385.11|LEPRE1|LEPRE1|Confirmed DD Gene|Biallelic|Loss of function|Osteogenesis imperfecta, type VIII|10800|610915|17277775 ;19088120|HP:0000007 ;HP:0000023 ;HP:0000260 ;HP:0000270 ;HP:0000311 ;HP:0000520 ;HP:0000883 ;HP:0000926 ;HP:0000938 ;HP:0001263 ;HP:0001388 ;HP:0001552 ;HP:0002645 ;HP:0002650 ;HP:0002757 ;HP:0002808 ;HP:0002953 ;HP:0002980 ;HP:0002982 ;HP:0002986 ;HP:0003100 ;HP:0003783 ;HP:0003784 ;HP:0004331 ;HP:0005855 ;HP:0008873 ;HP:0010049
chr1|43391052|43424530|ENSG00000117394.15|ENSG00000117394.15|SLC2A1|SLC2A1|Confirmed DD Gene|Monoallelic|Loss of function|GLUT1 deficiency syndrome type 1 (GLUT1DS1)|10243|606777|11603379 ;1714544 ;20221955 ;11136715 ;9462754 ;10980529 ;18606970|HP:0000006 ;HP:0000007 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001266 ;HP:0001269 ;HP:0001289 ;HP:0001328 ;HP:0001336 ;HP:0001347 ;HP:0001939 ;HP:0002268 ;HP:0002353 ;HP:0002360 ;HP:0003470 ;HP:0003487 ;HP:0003593 ;HP:0003812 ;HP:0005484 ;HP:0007704 ;HP:0011972 ;HP:0011973
chr1|43391052|43424530|ENSG00000117394.15|ENSG00000117394.15|SLC2A1|SLC2A1|Confirmed DD Gene|Monoallelic|Loss of function|GLUT1 deficiency syndrome type 2 (GLUT1DS2)|10247|612126|18403583 ;14605501 ;19901175 ;19630075 ;18577546 ;18451999|HP:0000006 ;HP:0000737 ;HP:0001251 ;HP:0001263 ;HP:0001266 ;HP:0001332 ;HP:0001923 ;HP:0002059 ;HP:0002076 ;HP:0003829 ;HP:0011972 ;HP:0100660
chr1|43855553|43918321|ENSG00000198198.9|ENSG00000198198.9|SZT2|SZT2|Probable DD gene|Biallelic|Loss of function|Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum|13632||23932106|
chr1|44171495|44396831|ENSG00000126091.15|ENSG00000126091.15|ST3GAL3|ST3GAL3|Probable DD gene|Biallelic|All missense/in frame|Mental retardation, autosomal recessive 12|10141|611090|21907012 ;17120046|HP:0000007 ;HP:0001249
chr1|45965725|45976739|ENSG00000132763.10|ENSG00000132763.10|MMACHC|MMACHC|Confirmed DD Gene|Biallelic|Loss of function|Methylmalonic aciduria and homocystinuria, cblC type|10778|277400|11320193 ;16311595 ;20631720 ;16714133|HP:0000007 ;HP:0000083 ;HP:0000093 ;HP:0000112 ;HP:0000238 ;HP:0000252 ;HP:0000276 ;HP:0000319 ;HP:0000348 ;HP:0000369 ;HP:0000386 ;HP:0000505 ;HP:0000580 ;HP:0000639 ;HP:0000726 ;HP:0000790 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001289 ;HP:0001337 ;HP:0001508 ;HP:0001873 ;HP:0001875 ;HP:0001889 ;HP:0001907 ;HP:0001942 ;HP:0002071 ;HP:0002120 ;HP:0002156 ;HP:0002160 ;HP:0002912 ;HP:0003145 ;HP:0003153 ;HP:0003210 ;HP:0003223 ;HP:0003286 ;HP:0003524 ;HP:0003584 ;HP:0003593 ;HP:0003658 ;HP:0005575 ;HP:0008872 ;HP:0012120
chr1|46654354|46685977|ENSG00000085998.9|ENSG00000085998.9|POMGNT1|POMGNT1|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3|10289|253280|17878207 ;12588800 ;15236414 ;11709191|HP:0000007 ;HP:0000232 ;HP:0000238 ;HP:0000252 ;HP:0000272 ;HP:0000347 ;HP:0000485 ;HP:0000486 ;HP:0000518 ;HP:0000546 ;HP:0000550 ;HP:0000557 ;HP:0000568 ;HP:0000589 ;HP:0000639 ;HP:0000648 ;HP:0000654 ;HP:0000980 ;HP:0001105 ;HP:0001250 ;HP:0001257 ;HP:0001290 ;HP:0001302 ;HP:0001321 ;HP:0001324 ;HP:0001336 ;HP:0001425 ;HP:0002119 ;HP:0002126 ;HP:0002187 ;HP:0002350 ;HP:0002353 ;HP:0002365 ;HP:0003194 ;HP:0003236 ;HP:0003324 ;HP:0003560 ;HP:0003577 ;HP:0003812 ;HP:0006829 ;HP:0007033 ;HP:0007260 ;HP:0007738 ;HP:0007759 ;HP:0007770 ;HP:0007973 ;HP:0008012 ;HP:0008045 ;HP:0010864 ;HP:0011344
chr1|46654354|46685977|ENSG00000085998.9|ENSG00000085998.9|POMGNT1|POMGNT1|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3)|10319|613151|19067344 ;19299310|HP:0000007 ;HP:0000252 ;HP:0000486 ;HP:0000545 ;HP:0000648 ;HP:0001249 ;HP:0001270 ;HP:0001321 ;HP:0002119 ;HP:0002350 ;HP:0003236 ;HP:0003560 ;HP:0003577
chr1|46654354|46685977|ENSG00000085998.9|ENSG00000085998.9|POMGNT1|POMGNT1|Confirmed DD Gene|Biallelic|Uncertain|muscular dystrophy-dystroglycanopathy limb-girdle type C3 (MDDGC3)|11238|613157|18195152 ;22419172|HP:0000007 ;HP:0000545 ;HP:0001270 ;HP:0003236 ;HP:0003307 ;HP:0003391 ;HP:0003551 ;HP:0003676 ;HP:0003712
chr1|47715811|47779819|ENSG00000123473.11|ENSG00000123473.11|STIL|STIL|Probable DD gene|Biallelic|Loss of function|microcephaly primary type 7|10999|612703|19215732|HP:0000007 ;HP:0000252 ;HP:0001249
chr1|47881744|47883723|ENSG00000186790.4|ENSG00000186790.4|FOXE3|FOXE3|Confirmed DD Gene|Monoallelic|Loss of function|anterior segment mesenchymal dysgenesis (ASMD)|10278|107250|3550563 ;11159941 ;6801987|HP:0000006 ;HP:0001115 ;HP:0001115 ;HP:0001115 ;HP:0001115 ;HP:0007700 ;HP:0007700 ;HP:0007759
chr1|47881744|47883723|ENSG00000186790.4|ENSG00000186790.4|FOXE3|FOXE3|Confirmed DD Gene|Biallelic|Loss of function|congenital primary aphakia (CPA)|10310|610256||HP:0000007 ;HP:0000526 ;HP:0000568 ;HP:0000647 ;HP:0007700 ;HP:0007707 ;HP:0007779
chr1|50905150|51425935|ENSG00000185104.15|ENSG00000185104.15|FAF1|FAF1|Possible DD Gene|Uncertain|Uncertain|Orofacial cleft 13 |11370|613857||HP:0000006
chr1|52838501|52870131|ENSG00000085840.8|ENSG00000085840.8|ORC1|ORC1|Confirmed DD Gene|Biallelic|Loss of function|Meier-Gorlin syndrome 1|10681|224690|21358633|HP:0000007 ;HP:0000028 ;HP:0000049 ;HP:0000054 ;HP:0000057 ;HP:0000059 ;HP:0000064 ;HP:0000156 ;HP:0000160 ;HP:0000175 ;HP:0000179 ;HP:0000237 ;HP:0000252 ;HP:0000327 ;HP:0000347 ;HP:0000365 ;HP:0000369 ;HP:0000376 ;HP:0000413 ;HP:0000486 ;HP:0000527 ;HP:0000581 ;HP:0000691 ;HP:0000768 ;HP:0000773 ;HP:0000883 ;HP:0000895 ;HP:0000911 ;HP:0000963 ;HP:0001249 ;HP:0001388 ;HP:0001425 ;HP:0001508 ;HP:0001511 ;HP:0001518 ;HP:0001547 ;HP:0001623 ;HP:0001762 ;HP:0001795 ;HP:0002007 ;HP:0002020 ;HP:0002098 ;HP:0002644 ;HP:0002750 ;HP:0002857 ;HP:0002937 ;HP:0002970 ;HP:0003042 ;HP:0003100 ;HP:0003187 ;HP:0003561 ;HP:0004209 ;HP:0004279 ;HP:0006498 ;HP:0006591 ;HP:0006628 ;HP:0008551 ;HP:0008872 ;HP:0009473 ;HP:0010554 ;HP:0200055
chr1|55315306|55352891|ENSG00000116133.7|ENSG00000116133.7|DHCR24|DHCR24|Confirmed DD Gene|Biallelic|Loss of function|Desmosterolosis|11023|238860||
chr1|55464606|55476556|ENSG00000162399.6|ENSG00000162399.6|BSND|BSND|Confirmed DD Gene|Biallelic|Loss of function|Bartter syndrome type 4A|10967|602522|11687798 ;12574213 ;19646679|HP:0000007 ;HP:0000083 ;HP:0000103 ;HP:0000127 ;HP:0000407 ;HP:0000859 ;HP:0000969 ;HP:0001249 ;HP:0001252 ;HP:0001265 ;HP:0001270 ;HP:0001425 ;HP:0001508 ;HP:0001561 ;HP:0001563 ;HP:0001622 ;HP:0001789 ;HP:0002900 ;HP:0002902 ;HP:0002914 ;HP:0003081 ;HP:0003113 ;HP:0003577 ;HP:0003608 ;HP:0004737 ;HP:0004909 ;HP:0005565 ;HP:0005576 ;HP:0012213
chr1|62920399|63153969|ENSG00000116641.11|ENSG00000116641.11|DOCK7|DOCK7|Probable DD gene|Biallelic|Loss of function|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23|13725|615859|24814191|
chr1|63833261|63904233|ENSG00000088035.11|ENSG00000088035.11|ALG6|ALG6|Confirmed DD Gene|Biallelic|Loss of function|ALG6-CDG (CDG-Ic)|11007|237124||
chr1|67465015|67519782|ENSG00000116704.6|ENSG00000116704.6|SLC35D1|SLC35D1|Confirmed DD Gene|Biallelic|Loss of function|Schneckenbecken dysplasia (SCHBCKD)|10931|269250|19508970 ;17952091 ;11200994|HP:0000007 ;HP:0000175 ;HP:0000256 ;HP:0000272 ;HP:0000470 ;HP:0000773 ;HP:0000774 ;HP:0000882 ;HP:0000895 ;HP:0000907 ;HP:0000947 ;HP:0001156 ;HP:0001561 ;HP:0003025 ;HP:0003180 ;HP:0003300 ;HP:0003826 ;HP:0003826 ;HP:0004233 ;HP:0008108 ;HP:0008873
chr1|68894505|68915642|ENSG00000116745.6|ENSG00000116745.6|RPE65|RPE65|Confirmed DD Gene|Biallelic|Loss of function|Leber Congenital Amaurosis|12991|240100|9326927|
chr1|76190036|76253260|ENSG00000117054.9|ENSG00000117054.9|ACADM|ACADM|Confirmed DD Gene|Biallelic|Loss of function|Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency|11746|201450|9158144 ;11349232 ;7929823 ;6434827 ;1972503 ;1684086 ;7603790 ;11409868; 1972503|HP:0000007 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001397 ;HP:0001942 ;HP:0001942 ;HP:0001943 ;HP:0002013 ;HP:0002181 ;HP:0002240 ;HP:0002910 ;HP:0003108 ;HP:0003234 ;HP:0008309
chr1|92711959|92764544|ENSG00000174842.12|ENSG00000174842.12|GLMN|GLMN|Confirmed DD Gene|Monoallelic|Loss of function|glomuvenous malformations (GVMs)|10404|138000|11845407 ;11175297|HP:0000006 ;HP:0000951 ;HP:0001939
chr1|100315640|100389579|ENSG00000162688.11|ENSG00000162688.11|AGL|AGL|Confirmed DD Gene|Biallelic|Loss of function|Glycogen Storage Disease Type III|11770|232400|19834502 ;8702417 ;9490286 ;10925384 ;10571954 ;9412782 ;11378828 ;10655153 ;8990006 ;8755644; 8755644|HP:0000007 ;HP:0000219 ;HP:0000233 ;HP:0000272 ;HP:0000455 ;HP:0000490 ;HP:0001324 ;HP:0001395 ;HP:0001638 ;HP:0001714 ;HP:0001943 ;HP:0002240 ;HP:0002910 ;HP:0003077 ;HP:0003198 ;HP:0003236 ;HP:0003693 ;HP:0004322 ;HP:0005280
chr1|100652475|100715390|ENSG00000137992.10|ENSG00000137992.10|DBT|DBT|Confirmed DD Gene|Biallelic|Loss of function|Maple Syrup Urine Diseaseq|11022|248600||HP:0000007 ;HP:0000738 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001276 ;HP:0001507 ;HP:0001733 ;HP:0001943 ;HP:0001946 ;HP:0002013 ;HP:0002181 ;HP:0003128 ;HP:0008344 ;HP:0008872
chr1|103342023|103574052|ENSG00000060718.14|ENSG00000060718.14|COL11A1|COL11A1|Confirmed DD Gene|Biallelic|Loss of function|Fibrochondrogenesis|10734|228520|21035103|HP:0000007 ;HP:0000160 ;HP:0000175 ;HP:0000260 ;HP:0000272 ;HP:0000343 ;HP:0000369 ;HP:0000377 ;HP:0000463 ;HP:0000470 ;HP:0000485 ;HP:0000520 ;HP:0000773 ;HP:0000882 ;HP:0000883 ;HP:0000890 ;HP:0000907 ;HP:0000922 ;HP:0000926 ;HP:0000947 ;HP:0001538 ;HP:0001539 ;HP:0001655 ;HP:0001773 ;HP:0001789 ;HP:0001800 ;HP:0001804 ;HP:0002007 ;HP:0003026 ;HP:0003038 ;HP:0003175 ;HP:0003196 ;HP:0003375 ;HP:0003826 ;HP:0004209 ;HP:0004279 ;HP:0005257 ;HP:0005280 ;HP:0005442 ;HP:0005476 ;HP:0005622 ;HP:0006645 ;HP:0008451 ;HP:0008905 ;HP:0009473 ;HP:0100865 ;HP:0200055
chr1|103342023|103574052|ENSG00000060718.14|ENSG00000060718.14|COL11A1|COL11A1|Confirmed DD Gene|Monoallelic|Dominant negative|Stickler syndrome, type II|10253|604841|10573014 ;8872475|HP:0000006 ;HP:0000175 ;HP:0000193 ;HP:0000201 ;HP:0000272 ;HP:0000347 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000518 ;HP:0000541 ;HP:0000545 ;HP:0001166 ;HP:0001382 ;HP:0002655 ;HP:0003040 ;HP:0004327 ;HP:0005280 ;HP:0100807
chr1|109417972|109477167|ENSG00000121957.8|ENSG00000121957.8|GPSM2|GPSM2|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 82|10987|613557|20602914|
chr1|109417972|109477167|ENSG00000121957.8|ENSG00000121957.8|GPSM2|GPSM2|Confirmed DD Gene|Biallelic|Loss of function|Chudley-McCullough Syndrome|13376||22578326|
chr1|110091233|110136975|ENSG00000065135.7|ENSG00000065135.7|GNAI3|GNAI3|Confirmed DD Gene|Monoallelic|All missense/in frame|AURICULOCONDYLAR SYNDROME|10225|602483|11102934|HP:0000006 ;HP:0000160 ;HP:0000162 ;HP:0000175 ;HP:0000256 ;HP:0000311 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000378 ;HP:0000384 ;HP:0000402 ;HP:0000678 ;HP:0000689 ;HP:0002094 ;HP:0002104 ;HP:0004451 ;HP:0004453 ;HP:0005216 ;HP:0007627 ;HP:0007628 ;HP:0008537 ;HP:0008559 ;HP:0009088 ;HP:0009102
chr1|110158726|110174673|ENSG00000116337.11|ENSG00000116337.11|AMPD2|AMPD2|Confirmed DD Gene|Biallelic|Loss of function|Pontocerebellar hypoplasia|13613||23911318|
chr1|110602616|110613322|ENSG00000156150.6|ENSG00000156150.6|ALX3|ALX3|Confirmed DD Gene|Biallelic|Loss of function|frontonasal dysplasia type 1 (FND1)|10325|136760|19409524|HP:0000161 ;HP:0000286 ;HP:0000316 ;HP:0000327 ;HP:0000349 ;HP:0000369 ;HP:0000384 ;HP:0000405 ;HP:0000431 ;HP:0000431 ;HP:0000455 ;HP:0000456 ;HP:0000508 ;HP:0000518 ;HP:0000568 ;HP:0000589 ;HP:0001156 ;HP:0001162 ;HP:0001249 ;HP:0001274 ;HP:0001566 ;HP:0001636 ;HP:0002000 ;HP:0002738 ;HP:0003745 ;HP:0004423 ;HP:0005258 ;HP:0006931 ;HP:0006992 ;HP:0007541 ;HP:0009004 ;HP:0009099 ;HP:0009466 ;HP:0009473
chr1|113615831|113674882|ENSG00000198799.7|ENSG00000198799.7|LRIG2|LRIG2|Probable DD gene|Biallelic|Loss of function|UROFACIAL SYNDROME; UFS|13434|236730||HP:0000007 ;HP:0000010 ;HP:0000028 ;HP:0000072 ;HP:0000126 ;HP:0000805 ;HP:0001999 ;HP:0002019 ;HP:0005346 ;HP:0010481
chr1|114437370|114447823|ENSG00000134262.8|ENSG00000134262.8|AP4B1|AP4B1|Probable DD gene|Biallelic|All missense/in frame|cerebral palsy spastic quadriplegic type 5|10194|614066|21620353 ;22290197|HP:0000007 ;HP:0000156 ;HP:0000252 ;HP:0000431 ;HP:0000750 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001319 ;HP:0001332 ;HP:0001347 ;HP:0001763 ;HP:0002319 ;HP:0002515 ;HP:0002816 ;HP:0003487 ;HP:0003577 ;HP:0003677 ;HP:0004322 ;HP:0010864
chr1|115247090|115259515|ENSG00000213281.4|ENSG00000213281.4|NRAS|NRAS|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome type 6|10106|613224|19966803|HP:0000028 ;HP:0000256 ;HP:0000316 ;HP:0000369 ;HP:0000465 ;HP:0000545 ;HP:0000750 ;HP:0000962 ;HP:0001256 ;HP:0001290 ;HP:0001555 ;HP:0001639 ;HP:0001642 ;HP:0002212 ;HP:0004322
chr1|116184574|116240845|ENSG00000173218.10|ENSG00000173218.10|VANGL1|VANGL1|Possible DD Gene|Monoallelic|Uncertain|neural tube defects (NTD)|11289|182940||HP:0000006 ;HP:0000020 ;HP:0000238 ;HP:0001012 ;HP:0002323 ;HP:0002475 ;HP:0003298 ;HP:0008482
chr1|116184574|116240845|ENSG00000173218.10|ENSG00000173218.10|VANGL1|VANGL1|Possible DD Gene|Monoallelic|Uncertain|sacral defect with anterior meningocele (SDAM)|11361|600145||HP:0000006 ;HP:0000011 ;HP:0001287 ;HP:0002019 ;HP:0002315 ;HP:0003418 ;HP:0005224 ;HP:0007293 ;HP:0012033
chr1|120202421|120286838|ENSG00000092621.7|ENSG00000092621.7|PHGDH|PHGDH|Confirmed DD Gene|Biallelic|Loss of function|Phosphoglycerate dehydrogenase deficiency	|13580|601815|11055895 ;11034457 ;19235232|HP:0000007 ;HP:0000519 ;HP:0000639 ;HP:0001181 ;HP:0001249 ;HP:0001250 ;HP:0001510 ;HP:0001873 ;HP:0001889 ;HP:0002510 ;HP:0002521 ;HP:0007266 ;HP:0008734 ;HP:0011451
chr1|120202421|120286838|ENSG00000092621.7|ENSG00000092621.7|PHGDH|PHGDH|Confirmed DD Gene|Biallelic|Loss of function|NEU-LAXOVA SYNDROME; NLS|13724|256520|24836451|HP:0000007 ;HP:0000028 ;HP:0000104 ;HP:0000136 ;HP:0000175 ;HP:0000179 ;HP:0000204 ;HP:0000252 ;HP:0000316 ;HP:0000340 ;HP:0000347 ;HP:0000400 ;HP:0000470 ;HP:0000518 ;HP:0000520 ;HP:0000561 ;HP:0000568 ;HP:0001002 ;HP:0001059 ;HP:0001196 ;HP:0001274 ;HP:0001305 ;HP:0001321 ;HP:0001339 ;HP:0001511 ;HP:0001558 ;HP:0001561 ;HP:0001629 ;HP:0001643 ;HP:0001655 ;HP:0001669 ;HP:0001770 ;HP:0001838 ;HP:0001848 ;HP:0002089 ;HP:0002190 ;HP:0002324 ;HP:0002414 ;HP:0003826 ;HP:0005753 ;HP:0006101 ;HP:0007430 ;HP:0007525 ;HP:0009466 ;HP:0009473 ;HP:0011224
chr1|120290619|120311528|ENSG00000134240.7|ENSG00000134240.7|HMGCS2|HMGCS2|Confirmed DD Gene|Biallelic|All missense/in frame|3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency|12429|605911|11479731 ;9727719 ;9337379 ;12647205; 11228257|
chr1|120454176|120612240|ENSG00000134250.13|ENSG00000134250.13|NOTCH2|NOTCH2|Confirmed DD Gene|Monoallelic|Activating|Hajdu-Cheney syndrome|10087|102500|21712856 ;21378989 ;21378985|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000107 ;HP:0000156 ;HP:0000238 ;HP:0000286 ;HP:0000343 ;HP:0000347 ;HP:0000369 ;HP:0000405 ;HP:0000445 ;HP:0000463 ;HP:0000470 ;HP:0000494 ;HP:0000506 ;HP:0000527 ;HP:0000574 ;HP:0000664 ;HP:0000689 ;HP:0000938 ;HP:0000939 ;HP:0001007 ;HP:0001388 ;HP:0001508 ;HP:0001537 ;HP:0001799 ;HP:0001842 ;HP:0002645 ;HP:0002688 ;HP:0002751 ;HP:0002756 ;HP:0002857 ;HP:0002953 ;HP:0003083 ;HP:0004322 ;HP:0004586 ;HP:0005463 ;HP:0006180 ;HP:0006480 ;HP:0008421 ;HP:0008462 ;HP:0009748 ;HP:0009771
chr1|145507598|145513536|ENSG00000131795.8|ENSG00000131795.8|RBM8A|RBM8A|Confirmed DD Gene|Biallelic|Loss of function|Thrombocytopenia-absent radius syndrome|10673|274000|22366785|HP:0000007 ;HP:0000085 ;HP:0000151 ;HP:0000248 ;HP:0000272 ;HP:0000347 ;HP:0000463 ;HP:0000486 ;HP:0000508 ;HP:0000891 ;HP:0000895 ;HP:0001051 ;HP:0001181 ;HP:0001250 ;HP:0001263 ;HP:0001270 ;HP:0001321 ;HP:0001433 ;HP:0001498 ;HP:0001522 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001671 ;HP:0001680 ;HP:0001737 ;HP:0001762 ;HP:0001873 ;HP:0001880 ;HP:0001903 ;HP:0002188 ;HP:0002245 ;HP:0002389 ;HP:0002414 ;HP:0002673 ;HP:0002827 ;HP:0002949 ;HP:0002970 ;HP:0002990 ;HP:0002999 ;HP:0003043 ;HP:0004209 ;HP:0004313 ;HP:0004322 ;HP:0004717 ;HP:0004977 ;HP:0006101 ;HP:0006443 ;HP:0006495 ;HP:0006507 ;HP:0007413 ;HP:0007514 ;HP:0008952 ;HP:0009702 ;HP:0009829 ;HP:0011304 ;HP:0012098 ;HP:0100327 ;HP:0100694
chr1|147374946|147381393|ENSG00000121634.4|ENSG00000121634.4|GJA8|GJA8|Confirmed DD Gene|Monoallelic|Uncertain|cataract zonular pulverulent type 1 (CZP1)|11380|116200|18006672 ;10480374 ;16604058 ;11846744 ;9497259 ;14627691|HP:0000006 ;HP:0000519 ;HP:0100018
chr1|147374946|147381393|ENSG00000121634.4|ENSG00000121634.4|GJA8|GJA8|Confirmed DD Gene|Monoallelic|Uncertain|cataract-microcornea syndrome (CAMIS)|11387|116150||HP:0000006 ;HP:0000482 ;HP:0000518 ;HP:0000545 ;HP:0000612 ;HP:0000647 ;HP:0000659
chr1|149895209|149900236|ENSG00000143368.9|ENSG00000143368.9|SF3B4|SF3B4|Confirmed DD Gene|Monoallelic|Loss of function|ACROFACIAL DYSOSTOSIS 1, NAGER TYPE|11194|154400|22541558|HP:0000006 ;HP:0000122 ;HP:0000154 ;HP:0000175 ;HP:0000204 ;HP:0000211 ;HP:0000220 ;HP:0000238 ;HP:0000252 ;HP:0000272 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000384 ;HP:0000405 ;HP:0000413 ;HP:0000426 ;HP:0000494 ;HP:0000652 ;HP:0000750 ;HP:0000813 ;HP:0001025 ;HP:0001199 ;HP:0001377 ;HP:0001543 ;HP:0001622 ;HP:0001636 ;HP:0001762 ;HP:0001770 ;HP:0001822 ;HP:0001831 ;HP:0001845 ;HP:0001849 ;HP:0002126 ;HP:0002251 ;HP:0002410 ;HP:0002650 ;HP:0002827 ;HP:0002974 ;HP:0002984 ;HP:0003319 ;HP:0003974 ;HP:0004322 ;HP:0005349 ;HP:0006657 ;HP:0007776 ;HP:0008749 ;HP:0009466 ;HP:0009601 ;HP:0009777 ;HP:0010055
chr1|150768684|150780799|ENSG00000143387.8|ENSG00000143387.8|CTSK|CTSK|Confirmed DD Gene|Biallelic|Loss of function|Pycnodysostosis|12083|265800|8703060 ;10878663 ;10491211|HP:0000007 ;HP:0000189 ;HP:0000269 ;HP:0000347 ;HP:0000448 ;HP:0000668 ;HP:0000670 ;HP:0000680 ;HP:0000696 ;HP:0000765 ;HP:0001156 ;HP:0001807 ;HP:0002007 ;HP:0002644 ;HP:0002645 ;HP:0002650 ;HP:0002688 ;HP:0003302 ;HP:0003304 ;HP:0004322 ;HP:0004474 ;HP:0006335 ;HP:0009839 ;HP:0011001
chr1|152274651|152297679|ENSG00000143631.10|ENSG00000143631.10|FLG|FLG|Confirmed DD Gene|Biallelic|Loss of function|Ichthyosis vulgaris|10779|146700|17291859 ;16444271|HP:0000006 ;HP:0000976 ;HP:0002099 ;HP:0008064
chr1|153777201|153895451|ENSG00000143614.7|ENSG00000143614.7|GATAD2B|GATAD2B|Possible DD Gene|Monoallelic|Loss of function|Nonspecific severe ID|13442|615074|23644463|
chr1|154244987|154248351|ENSG00000143575.10|ENSG00000143575.10|HAX1|HAX1|Confirmed DD Gene|Biallelic|Loss of function|Neutropenia, severe congenital 3, autosomal recessive|10799|610738|18337561 ;18611981 ;17187068 ;19036076|HP:0000007 ;HP:0001250 ;HP:0001263 ;HP:0001875 ;HP:0001909 ;HP:0002718 ;HP:0002863 ;HP:0003593
chr1|154554538|154600475|ENSG00000160710.11|ENSG00000160710.11|ADAR|ADAR|Confirmed DD Gene|Monoallelic|Loss of function|Dyschromatosis Symmetrica Hereditaria 1|11767|127400|16935814 ;12916015 ;16817193 ;17478391; 12916015|HP:0000006 ;HP:0003593 ;HP:0007441
chr1|154554538|154600475|ENSG00000160710.11|ENSG00000160710.11|ADAR|ADAR|Confirmed DD Gene|Both|Loss of function|Aicardi-Goutires syndrome associated with a type I interferon signature|13473|615010|23001123; 23001123|
chr1|155112367|155113071|ENSG00000179085.7|ENSG00000179085.7|DPM3|DPM3|Probable DD gene|Biallelic|Loss of function|congenital disorder of glycosylation type 1O|10995|612937|19576565|HP:0000007 ;HP:0001324 ;HP:0001644 ;HP:0002515 ;HP:0002910 ;HP:0003236 ;HP:0003557 ;HP:0003642 ;HP:0003805
chr1|155204243|155214490|ENSG00000177628.11|ENSG00000177628.11|GBA|GBA|Both DD and IF|Biallelic|Loss of function|Gaucher disease (GD)|10847|230800||HP:0000007 ;HP:0000421 ;HP:0000478 ;HP:0000953 ;HP:0001744 ;HP:0001873 ;HP:0001876 ;HP:0001903 ;HP:0001971 ;HP:0002092 ;HP:0002094 ;HP:0002113 ;HP:0002240 ;HP:0002653 ;HP:0002756 ;HP:0002953 ;HP:0004975 ;HP:0006530 ;HP:0006775 ;HP:0010885
chr1|155204243|155214490|ENSG00000177628.11|ENSG00000177628.11|GBA|GBA|Both DD and IF|Biallelic|Loss of function|Gaucher disease type 1 (GD1)|10848|230800||HP:0000007 ;HP:0000421 ;HP:0000478 ;HP:0000953 ;HP:0001744 ;HP:0001873 ;HP:0001876 ;HP:0001903 ;HP:0001971 ;HP:0002092 ;HP:0002094 ;HP:0002113 ;HP:0002240 ;HP:0002653 ;HP:0002756 ;HP:0002953 ;HP:0004975 ;HP:0006530 ;HP:0006775 ;HP:0010885
chr1|155204243|155214490|ENSG00000177628.11|ENSG00000177628.11|GBA|GBA|Both DD and IF|Biallelic|Loss of function|Gaucher disease type 2 (GD2)|10849|230900||HP:0000007 ;HP:0000211 ;HP:0000486 ;HP:0000565 ;HP:0000657 ;HP:0001250 ;HP:0001257 ;HP:0001263 ;HP:0001347 ;HP:0001508 ;HP:0001538 ;HP:0001744 ;HP:0001873 ;HP:0001903 ;HP:0002015 ;HP:0002059 ;HP:0002063 ;HP:0002100 ;HP:0002104 ;HP:0002240 ;HP:0002344 ;HP:0002483 ;HP:0011968
chr1|155204243|155214490|ENSG00000177628.11|ENSG00000177628.11|GBA|GBA|Both DD and IF|Biallelic|Loss of function|Gaucher disease type 3 (GD3)|10850|231000||HP:0000007 ;HP:0000486 ;HP:0000716 ;HP:0000726 ;HP:0001251 ;HP:0001270 ;HP:0001336 ;HP:0001744 ;HP:0001873 ;HP:0001876 ;HP:0002123 ;HP:0002167 ;HP:0002240 ;HP:0002313 ;HP:0002344 ;HP:0003581 ;HP:0003656 ;HP:0003812 ;HP:0004322 ;HP:0004325 ;HP:0004934 ;HP:0007817
chr1|155204243|155214490|ENSG00000177628.11|ENSG00000177628.11|GBA|GBA|Both DD and IF|Biallelic|Loss of function|Gaucher disease type 3C (GD3C)|10851|231005||HP:0000007 ;HP:0000238 ;HP:0000486 ;HP:0000623 ;HP:0000666 ;HP:0001250 ;HP:0001640 ;HP:0001744 ;HP:0001761 ;HP:0001876 ;HP:0002240 ;HP:0004963 ;HP:0005149 ;HP:0005173 ;HP:0007759 ;HP:0007885 ;HP:0007975
chr1|155204243|155214490|ENSG00000177628.11|ENSG00000177628.11|GBA|GBA|Both DD and IF|Biallelic|Loss of function|Gaucher disease perinatal lethal (GDPL)|10852|608013||HP:0000007 ;HP:0000160 ;HP:0000194 ;HP:0000232 ;HP:0000252 ;HP:0000278 ;HP:0000316 ;HP:0000325 ;HP:0000347 ;HP:0000369 ;HP:0000463 ;HP:0000486 ;HP:0000741 ;HP:0000962 ;HP:0000967 ;HP:0000979 ;HP:0001250 ;HP:0001399 ;HP:0001511 ;HP:0001541 ;HP:0001558 ;HP:0001561 ;HP:0001622 ;HP:0001640 ;HP:0001744 ;HP:0001790 ;HP:0001873 ;HP:0001903 ;HP:0002015 ;HP:0002098 ;HP:0002104 ;HP:0002179 ;HP:0002240 ;HP:0002304 ;HP:0002344 ;HP:0002375 ;HP:0002804 ;HP:0003196 ;HP:0003656 ;HP:0005257 ;HP:0005280 ;HP:0007479 ;HP:0007549 ;HP:0008551 ;HP:0010803
chr1|155305059|155532598|ENSG00000116539.6|ENSG00000116539.6|ASH1L|ASH1L|Possible DD Gene|Monoallelic|All missense/in frame|Intellectual disability|13625|||
chr1|155719508|155829191|ENSG00000116580.14|ENSG00000116580.14|GON4L|GON4L|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10021||21937992|
chr1|155867599|155881195|ENSG00000143622.6|ENSG00000143622.6|RIT1|RIT1|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome 8	|13649|615355|23791108|
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Loss of function|Emery-Dreifuss muscular dystrophy type 2|10435|181350||HP:0000006 ;HP:0001417 ;HP:0001644 ;HP:0001645 ;HP:0001771 ;HP:0002987 ;HP:0003236 ;HP:0003306 ;HP:0003325 ;HP:0003677 ;HP:0003690 ;HP:0003691 ;HP:0003828 ;HP:0004631 ;HP:0005997 ;HP:0006785 ;HP:0008180 ;HP:0008944 ;HP:0009049 ;HP:0011675 ;HP:0011727
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|cardiomyopathy dilated type 1A (CMD1A)|11330|115200||HP:0000006 ;HP:0001635 ;HP:0001644 ;HP:0001698 ;HP:0004308 ;HP:0004308 ;HP:0004749 ;HP:0005110
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|familial partial lipodystrophy type 2 (FPLD2)|11331|151660||HP:0000006 ;HP:0000147 ;HP:0000287 ;HP:0000311 ;HP:0000468 ;HP:0000822 ;HP:0000831 ;HP:0000842 ;HP:0000956 ;HP:0000991 ;HP:0001002 ;HP:0001007 ;HP:0001015 ;HP:0001397 ;HP:0001735 ;HP:0002155 ;HP:0002240 ;HP:0002621 ;HP:0003074 ;HP:0003233 ;HP:0003326 ;HP:0003635 ;HP:0003712 ;HP:0008739 ;HP:0008887 ;HP:0008985 ;HP:0008993 ;HP:0009002 ;HP:0009125
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|limb-girdle muscular dystrophy type 1B (LGMD1B)|11332|159001||HP:0000006 ;HP:0001371 ;HP:0001644 ;HP:0001645 ;HP:0001662 ;HP:0001692 ;HP:0002355 ;HP:0003236 ;HP:0003458 ;HP:0003547 ;HP:0003551 ;HP:0003560 ;HP:0003677 ;HP:0003749 ;HP:0005150 ;HP:0008946
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Biallelic|Uncertain|Charcot-Marie-Tooth disease type 2B1|11333|605588||HP:0000007 ;HP:0001265 ;HP:0001284 ;HP:0001761 ;HP:0002460 ;HP:0002751 ;HP:0002936 ;HP:0003376 ;HP:0003378 ;HP:0003380 ;HP:0003383 ;HP:0003384 ;HP:0003431 ;HP:0003484 ;HP:0003693 ;HP:0003701 ;HP:0009027 ;HP:0011007
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Activating|Hutchinson-Gilford progeria syndrome (HGPS)|10079|176670||HP:0000006 ;HP:0000272 ;HP:0000347 ;HP:0001510 ;HP:0001596 ;HP:0001635 ;HP:0001658 ;HP:0001681 ;HP:0004416 ;HP:0005181 ;HP:0005744 ;HP:0007485
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH)|11334|212112||HP:0000006 ;HP:0000007 ;HP:0000278 ;HP:0000815 ;HP:0000894 ;HP:0001638 ;HP:0001644 ;HP:0001653 ;HP:0009125 ;HP:0200021
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|mandibuloacral dysplasia with type A lipodystrophy (MADA)|11335|248370||HP:0000007 ;HP:0000156 ;HP:0000270 ;HP:0000287 ;HP:0000293 ;HP:0000320 ;HP:0000347 ;HP:0000418 ;HP:0000468 ;HP:0000520 ;HP:0000678 ;HP:0000685 ;HP:0000831 ;HP:0000833 ;HP:0000842 ;HP:0000894 ;HP:0000905 ;HP:0001002 ;HP:0001070 ;HP:0001371 ;HP:0001387 ;HP:0001425 ;HP:0001596 ;HP:0001870 ;HP:0002209 ;HP:0002645 ;HP:0003074 ;HP:0003077 ;HP:0003621 ;HP:0003635 ;HP:0003761 ;HP:0004334 ;HP:0006480 ;HP:0008897 ;HP:0009125 ;HP:0009839
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Activating|lethal tight skin contracture syndrome (LTSCS)|10080|275210||HP:0000007 ;HP:0000047 ;HP:0000073 ;HP:0000160 ;HP:0000176 ;HP:0000239 ;HP:0000316 ;HP:0000347 ;HP:0000369 ;HP:0000377 ;HP:0000418 ;HP:0000453 ;HP:0000581 ;HP:0000621 ;HP:0000653 ;HP:0000695 ;HP:0000835 ;HP:0001196 ;HP:0001371 ;HP:0001425 ;HP:0001511 ;HP:0001558 ;HP:0001561 ;HP:0001622 ;HP:0001631 ;HP:0001643 ;HP:0001788 ;HP:0001799 ;HP:0001838 ;HP:0002089 ;HP:0002751 ;HP:0003826 ;HP:0005253 ;HP:0005474 ;HP:0006391 ;HP:0006585 ;HP:0006645 ;HP:0007394 ;HP:0007543 ;HP:0011414 ;HP:0200041
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|heart-hand syndrome Slovenian type (HHS-Slovenian)|11336|610140||HP:0000006 ;HP:0001159 ;HP:0001644 ;HP:0003198 ;HP:0010239
chr1|156052364|156109880|ENSG00000160789.15|ENSG00000160789.15|LMNA|LMNA|Both DD and IF|Monoallelic|Uncertain|muscular dystrophy congenital LMNA-related (MDCL)|11337|613205||HP:0000006 ;HP:0000467 ;HP:0001270 ;HP:0001371 ;HP:0001508 ;HP:0001558 ;HP:0001883 ;HP:0002747 ;HP:0003236 ;HP:0003306 ;HP:0003676 ;HP:0003700 ;HP:0003828 ;HP:0006829
chr1|156785432|156851642|ENSG00000198400.7|ENSG00000198400.7|NTRK1|NTRK1|Confirmed DD Gene|Biallelic|Loss of function|congenital insensitivity to pain with anhidrosis (CIPA)|10466|256800|10090906 ;8696348 ;10330344 ;10982191 ;10861667 ;19250380 ;10233776|HP:0000007 ;HP:0000491 ;HP:0000495 ;HP:0000559 ;HP:0000712 ;HP:0000742 ;HP:0000752 ;HP:0000970 ;HP:0001226 ;HP:0001249 ;HP:0001263 ;HP:0001954 ;HP:0002164 ;HP:0002459 ;HP:0002715 ;HP:0002754 ;HP:0002821 ;HP:0003593 ;HP:0004782 ;HP:0005307 ;HP:0007021 ;HP:0007249 ;HP:0007759 ;HP:0008404
chr1|160007257|160040038|ENSG00000177807.6|ENSG00000177807.6|KCNJ10|KCNJ10|Confirmed DD Gene|Biallelic|Loss of function|seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)|10420|612780|19420365 ;21849804 ;20651251 ;19289823|HP:0000007 ;HP:0000103 ;HP:0000128 ;HP:0000407 ;HP:0000750 ;HP:0000805 ;HP:0000848 ;HP:0000859 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001272 ;HP:0001959 ;HP:0001960 ;HP:0002075 ;HP:0002080 ;HP:0002900 ;HP:0002917 ;HP:0003127 ;HP:0003593 ;HP:0004322 ;HP:0007182 ;HP:0007267
chr1|160246602|160256138|ENSG00000162735.14|ENSG00000162735.14|PEX19|PEX19|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 14 (PBD-CG14)|10864|600279||
chr1|160246602|160256138|ENSG00000162735.14|ENSG00000162735.14|PEX19|PEX19|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10865|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr1|161040785|161059389|ENSG00000143217.7|ENSG00000143217.7|PVRL4|PVRL4|Confirmed DD Gene|Biallelic|Loss of function|Ectodermal dysplasia-syndactyly syndrome 1|10743|613573|1646587 ;20691405 ;21346770|HP:0000535 ;HP:0000653 ;HP:0000698 ;HP:0001792 ;HP:0002209 ;HP:0003777 ;HP:0005709 ;HP:0006297 ;HP:0010554 ;HP:0010765
chr1|161199456|161208092|ENSG00000143257.7|ENSG00000143257.7|NR1I3|NR1I3|Possible DD Gene|Monoallelic|All missense/in frame| EHMT1-like Intellectual Disability|13391|||
chr1|162601163|162757190|ENSG00000162733.12|ENSG00000162733.12|DDR2|DDR2|Confirmed DD Gene|Biallelic|Uncertain|spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL)|11372|271665|19110212 ;8434618|HP:0000007 ;HP:0000156 ;HP:0000272 ;HP:0000316 ;HP:0000347 ;HP:0000464 ;HP:0000520 ;HP:0000767 ;HP:0000773 ;HP:0000907 ;HP:0000922 ;HP:0000926 ;HP:0001230 ;HP:0001252 ;HP:0001263 ;HP:0001591 ;HP:0001840 ;HP:0002007 ;HP:0002091 ;HP:0002176 ;HP:0002650 ;HP:0002651 ;HP:0002787 ;HP:0002827 ;HP:0002869 ;HP:0002987 ;HP:0003015 ;HP:0003026 ;HP:0003085 ;HP:0003196 ;HP:0003311 ;HP:0003320 ;HP:0003396 ;HP:0003467 ;HP:0005257 ;HP:0005280 ;HP:0005462 ;HP:0005622 ;HP:0005753 ;HP:0006009 ;HP:0006380 ;HP:0006532 ;HP:0006600 ;HP:0008873 ;HP:0009164 ;HP:0009875 ;HP:0010049 ;HP:0010655
chr1|165696032|165796992|ENSG00000143183.12|ENSG00000143183.12|TMCO1|TMCO1|Possible DD Gene|Biallelic|Loss of function|Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	|13516|614132|20018682|HP:0000007 ;HP:0000098 ;HP:0000119 ;HP:0000156 ;HP:0000175 ;HP:0000204 ;HP:0000212 ;HP:0000248 ;HP:0000316 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000470 ;HP:0000486 ;HP:0000527 ;HP:0000574 ;HP:0000664 ;HP:0000739 ;HP:0000767 ;HP:0000902 ;HP:0000912 ;HP:0001249 ;HP:0001263 ;HP:0001265 ;HP:0001363 ;HP:0001558 ;HP:0001561 ;HP:0001762 ;HP:0001763 ;HP:0002019 ;HP:0002080 ;HP:0002119 ;HP:0002553 ;HP:0002650 ;HP:0002948 ;HP:0003196 ;HP:0003812 ;HP:0004322 ;HP:0011968
chr1|170631869|170708560|ENSG00000116132.7|ENSG00000116132.7|PRRX1|PRRX1|Possible DD Gene|Both|All missense/in frame|Agnathia-otocephaly complex |10163|202650||HP:0000006 ;HP:0000007 ;HP:0000160 ;HP:0000171 ;HP:0000175 ;HP:0000347 ;HP:0000405 ;HP:0000478 ;HP:0000494 ;HP:0001274 ;HP:0001360 ;HP:0001696 ;HP:0002098 ;HP:0002779 ;HP:0003812 ;HP:0005349 ;HP:0008749 ;HP:0100663
chr1|171604557|171621823|ENSG00000034971.10|ENSG00000034971.10|MYOC|MYOC|Possible DD Gene|Monoallelic|Loss of function|primary open angle glaucoma type 1A (GLC1A)|10284|137750||HP:0000006 ;HP:0000501 ;HP:0000545 ;HP:0007905
chr1|171604557|171621823|ENSG00000034971.10|ENSG00000034971.10|MYOC|MYOC|Possible DD Gene|Monoallelic|Loss of function| primary congenital glaucoma type 3A (GLC3A)|10314|231300||HP:0000007 ;HP:0000557 ;HP:0001425 ;HP:0007906 ;HP:0008041
chr1|173793641|173827684|ENSG00000117593.8|ENSG00000117593.8|DARS2|DARS2|Both DD and IF|Biallelic|Loss of function|Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation|12107|611105|17384640,|HP:0000007 ;HP:0000639 ;HP:0001251 ;HP:0001257 ;HP:0001260 ;HP:0001265 ;HP:0001270 ;HP:0001324 ;HP:0001337 ;HP:0001347 ;HP:0003202 ;HP:0003477 ;HP:0003487 ;HP:0003677 ;HP:0003828
chr1|179519674|179545087|ENSG00000116218.8|ENSG00000116218.8|NPHS2|NPHS2|Confirmed DD Gene|Biallelic|Loss of function|Nephrotic syndrome, type 2	|13518|600995|10742096 ;8606597 ;8589695 ;12464671; 10742096|HP:0000007 ;HP:0000093 ;HP:0000097 ;HP:0000969 ;HP:0003073 ;HP:0003077 ;HP:0003621 ;HP:0003678 ;HP:0003774 ;HP:0003828 ;HP:0008727
chr1|180199421|180249380|ENSG00000121454.4|ENSG00000121454.4|LHX4|LHX4|Confirmed DD Gene|Monoallelic|Loss of function|LHX4-Related Combined Pituitary Hormone Deficiency|12623|290135||
chr1|180244515|180472089|ENSG00000135847.5|ENSG00000135847.5|ACBD6|ACBD6|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|11363||21937992|
chr1|182350839|182361341|ENSG00000135821.12|ENSG00000135821.12|GLUL|GLUL|Confirmed DD Gene|Biallelic|Uncertain|congenital systemic glutamine deficiency (CSGD)|11254|610015|16267323 ;21353613|HP:0000007 ;HP:0000369 ;HP:0000431 ;HP:0000988 ;HP:0001250 ;HP:0001298 ;HP:0001347 ;HP:0001371 ;HP:0001522 ;HP:0001662 ;HP:0001987 ;HP:0002093 ;HP:0002104 ;HP:0002119 ;HP:0002319 ;HP:0002416 ;HP:0002977 ;HP:0002983 ;HP:0003429 ;HP:0005280 ;HP:0007109 ;HP:0011344
chr1|197170592|197447585|ENSG00000134376.10|ENSG00000134376.10|CRB1|CRB1|Confirmed DD Gene|Biallelic|Loss of function|Leber congenital amaurosis 8	|13420|613835|16543197 ;11389483 ;11231775; 11389483|HP:0000007 ;HP:0000505 ;HP:0000518 ;HP:0000550 ;HP:0000563 ;HP:0008499 ;HP:0012043
chr1|197170592|197447585|ENSG00000134376.10|ENSG00000134376.10|CRB1|CRB1|Confirmed DD Gene|Biallelic|Loss of function|Retinitis pigmentosa-12, autosomal recessive	|13421|600105|19140180 ;11389483 ;10508521|HP:0000007 ;HP:0000510
chr1|200593024|200639097|ENSG00000118197.9|ENSG00000118197.9|DDX59|DDX59|Probable DD gene|Biallelic|All missense/in frame|Orofaciodigital syndrome|13631||23972372|
chr1|203830731|203839678|ENSG00000182004.8|ENSG00000182004.8|SNRPE|SNRPE|Probable DD gene|Monoallelic|All missense/in frame|Autosomal-Dominant Hypotrichosis Simplex|13500|615059|9621144 ;23246290; 23246290|HP:0000006 ;HP:0002221
chr1|205111632|205180727|ENSG00000133059.12|ENSG00000133059.12|DSTYK|DSTYK|Confirmed DD Gene|Monoallelic|Loss of function|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 |13598|610805|23862974|
chr1|209959036|209979465|ENSG00000117595.6|ENSG00000117595.6|IRF6|IRF6|Confirmed DD Gene|Monoallelic|Loss of function|van der Woude syndrome |10816|119300|18478600 ;14757865 ;14618417 ;12219090 ;12920575 ;19842205|HP:0000006 ;HP:0000175 ;HP:0000193 ;HP:0000196 ;HP:0000204 ;HP:0000668
chr1|209959036|209979465|ENSG00000117595.6|ENSG00000117595.6|IRF6|IRF6|Confirmed DD Gene|Monoallelic|Activating|Popliteal pterygium syndrome |10103|119500|12219090 ;20803643|HP:0000006 ;HP:0000013 ;HP:0000028 ;HP:0000046 ;HP:0000048 ;HP:0000059 ;HP:0000175 ;HP:0000196 ;HP:0000204 ;HP:0000726 ;HP:0001762 ;HP:0003298 ;HP:0008726 ;HP:0009754 ;HP:0009755 ;HP:0009756 ;HP:0009757 ;HP:0009758 ;HP:0010554
chr1|213031597|213072705|ENSG00000162769.8|ENSG00000162769.8|FLVCR1|FLVCR1|Confirmed DD Gene|Biallelic|All missense/in frame|Ataxia, posterior column, with retinitis pigmentosa|10133|609033|9409377 ;21267618 ;21070897|HP:0000007 ;HP:0000010 ;HP:0000020 ;HP:0000510 ;HP:0000550 ;HP:0000575 ;HP:0000618 ;HP:0000648 ;HP:0001249 ;HP:0001284 ;HP:0002136 ;HP:0002166 ;HP:0002403 ;HP:0002460 ;HP:0002571 ;HP:0002650 ;HP:0003202 ;HP:0003448 ;HP:0003677 ;HP:0007737 ;HP:0009473 ;HP:0010871 ;HP:0011463
chr1|214522039|214725792|ENSG00000152104.7|ENSG00000152104.7|PTPN14|PTPN14|Probable DD gene|Biallelic|Loss of function|Choanal atresia and lymphedema|10740|613611|20826270|HP:0000007 ;HP:0000156 ;HP:0000453 ;HP:0001698
chr1|218519577|218617961|ENSG00000092969.7|ENSG00000092969.7|TGFB2|TGFB2|Both DD and IF|Monoallelic|Loss of function|LOEYS-DIETZ SYNDROME, TYPE 4; LDS4|13386|614816||HP:0000006 ;HP:0000023 ;HP:0000098 ;HP:0000156 ;HP:0000278 ;HP:0000316 ;HP:0000494 ;HP:0000766 ;HP:0000978 ;HP:0001166 ;HP:0001634 ;HP:0001647 ;HP:0001762 ;HP:0001763 ;HP:0002097 ;HP:0002107 ;HP:0002647 ;HP:0002650 ;HP:0003302 ;HP:0005116 ;HP:0005692 ;HP:0100775
chr1|220321635|220445796|ENSG00000118873.11|ENSG00000118873.11|RAB3GAP2|RAB3GAP2|Confirmed DD Gene|Biallelic|Loss of function|Martsolf syndrome (MARTS)|11124|212720|16532399|HP:0000007 ;HP:0000028 ;HP:0000044 ;HP:0000054 ;HP:0000218 ;HP:0000248 ;HP:0000252 ;HP:0000286 ;HP:0000322 ;HP:0000327 ;HP:0000347 ;HP:0000358 ;HP:0000455 ;HP:0000494 ;HP:0000518 ;HP:0000692 ;HP:0000767 ;HP:0000768 ;HP:0001635 ;HP:0001638 ;HP:0001762 ;HP:0001831 ;HP:0001840 ;HP:0002205 ;HP:0002779 ;HP:0002938 ;HP:0003992 ;HP:0004279 ;HP:0004322 ;HP:0004405 ;HP:0004684 ;HP:0005280 ;HP:0006887 ;HP:0008388 ;HP:0008593 ;HP:0008872 ;HP:0009803 ;HP:0010049 ;HP:0010864
chr1|225589204|225616627|ENSG00000143815.10|ENSG00000143815.10|LBR|LBR|Confirmed DD Gene|Biallelic|Loss of function|hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM)|10901|215140|12618959|HP:0000007 ;HP:0000256 ;HP:0000272 ;HP:0000316 ;HP:0000327 ;HP:0000347 ;HP:0000348 ;HP:0000369 ;HP:0000476 ;HP:0000692 ;HP:0000773 ;HP:0000774 ;HP:0000782 ;HP:0000878 ;HP:0000890 ;HP:0000941 ;HP:0001162 ;HP:0001169 ;HP:0001367 ;HP:0001433 ;HP:0001539 ;HP:0001552 ;HP:0001561 ;HP:0001640 ;HP:0001790 ;HP:0001802 ;HP:0001804 ;HP:0001830 ;HP:0001852 ;HP:0001978 ;HP:0002089 ;HP:0002101 ;HP:0002202 ;HP:0002240 ;HP:0002566 ;HP:0002694 ;HP:0002787 ;HP:0002983 ;HP:0003015 ;HP:0003021 ;HP:0003107 ;HP:0003440 ;HP:0003811 ;HP:0004331 ;HP:0004510 ;HP:0004598 ;HP:0004599 ;HP:0005019 ;HP:0005099 ;HP:0005280 ;HP:0005528 ;HP:0005716 ;HP:0005855 ;HP:0006487 ;HP:0006559 ;HP:0006619 ;HP:0006637 ;HP:0008364 ;HP:0008420 ;HP:0008479 ;HP:0008516 ;HP:0008754 ;HP:0008873 ;HP:0008905 ;HP:0009106 ;HP:0009107 ;HP:0009487 ;HP:0009803 ;HP:0010655 ;HP:0010659 ;HP:0010675
chr1|226124298|226129189|ENSG00000143768.7|ENSG00000143768.7|LEFTY2|LEFTY2|Possible DD Gene|Monoallelic|Loss of function|Heterotaxy Syndrome|11047|207574||
chr1|226548392|226595780|ENSG00000143799.8|ENSG00000143799.8|PARP1|PARP1|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10033||21937992|
chr1|227085237|227175246|ENSG00000163050.12|ENSG00000163050.12|ADCK3|ADCK3|Confirmed DD Gene|Biallelic|Loss of function|Coenzyme Q10 deficiency|10963|607426||HP:0000007 ;HP:0000096 ;HP:0000100 ;HP:0000407 ;HP:0000510 ;HP:0000572 ;HP:0000639 ;HP:0000815 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001260 ;HP:0001270 ;HP:0001272 ;HP:0001298 ;HP:0001328 ;HP:0001399 ;HP:0001639 ;HP:0001876 ;HP:0001903 ;HP:0002168 ;HP:0002172 ;HP:0003128 ;HP:0003200 ;HP:0003236 ;HP:0003323 ;HP:0003652 ;HP:0003674 ;HP:0003812
chr1|228337553|228347527|ENSG00000198835.3|ENSG00000198835.3|GJC2|GJC2|Confirmed DD Gene|Monoallelic|All missense/in frame|Lymphedema, hereditary, IC|10128|613480|20537300|HP:0000006 ;HP:0001581 ;HP:0003829 ;HP:0100658
chr1|228337553|228347527|ENSG00000198835.3|ENSG00000198835.3|GJC2|GJC2|Confirmed DD Gene|Biallelic|All missense/in frame|Leukodystrophy, hypomyelinating, 2|10148|608804|18094336 ;8733901 ;15192806 ;16969684|HP:0000007 ;HP:0000648 ;HP:0001250 ;HP:0001251 ;HP:0001260 ;HP:0001266 ;HP:0001270 ;HP:0001583 ;HP:0002059 ;HP:0002080 ;HP:0002191 ;HP:0002313 ;HP:0002415 ;HP:0002599 ;HP:0003390 ;HP:0003431 ;HP:0003487 ;HP:0003593 ;HP:0006808 ;HP:0007220 ;HP:0008936 ;HP:0010628 ;HP:0100543
chr1|228337553|228347527|ENSG00000198835.3|ENSG00000198835.3|GJC2|GJC2|Confirmed DD Gene|Monoallelic|All missense/in frame|Spastic paraplegia, 44|10149|613206|19056803|HP:0000007 ;HP:0000020 ;HP:0000514 ;HP:0001250 ;HP:0001260 ;HP:0001310 ;HP:0001347 ;HP:0001761 ;HP:0002019 ;HP:0002061 ;HP:0002064 ;HP:0002080 ;HP:0002319 ;HP:0002650 ;HP:0002936 ;HP:0003487 ;HP:0006986
chr1|228612546|228613026|ENSG00000168148.3|ENSG00000168148.3|HIST3H3|HIST3H3|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10023||21937992|
chr1|231376953|231413719|ENSG00000116906.7|ENSG00000116906.7|GNPAT|GNPAT|Confirmed DD Gene|Biallelic|Loss of function|rhizomelic chondrodysplasia punctata type 2 (RCDP2)|10405|222765|9843043 ;21990100 ;9536089 ;1405476|HP:0000007 ;HP:0000156 ;HP:0000239 ;HP:0000252 ;HP:0000347 ;HP:0000348 ;HP:0000431 ;HP:0000463 ;HP:0000518 ;HP:0000938 ;HP:0001249 ;HP:0001252 ;HP:0001371 ;HP:0001508 ;HP:0002644 ;HP:0002650 ;HP:0002832 ;HP:0003301 ;HP:0005280 ;HP:0005792 ;HP:0006375 ;HP:0008838 ;HP:0008905
chr1|231472850|231490769|ENSG00000010072.11|ENSG00000010072.11|SPRTN|SPRTN|Possible DD Gene|Biallelic|All missense/in frame|Progeroid syndrome|13561|||
chr1|235530675|235612283|ENSG00000116957.8|ENSG00000116957.8|TBCE|TBCE|Confirmed DD Gene|Biallelic|Loss of function|hypoparathyroidism-retardation-dysmorphism syndrome (HRD)|10517|241410|12389028|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000193 ;HP:0000213 ;HP:0000252 ;HP:0000343 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000444 ;HP:0000490 ;HP:0001249 ;HP:0001281 ;HP:0001773 ;HP:0002007 ;HP:0002119 ;HP:0002199 ;HP:0002718 ;HP:0002750 ;HP:0002905 ;HP:0004279 ;HP:0005280 ;HP:0005686 ;HP:0008198 ;HP:0008846 ;HP:0008897 ;HP:0011220 ;HP:0200055
chr1|235530675|235612283|ENSG00000116957.8|ENSG00000116957.8|TBCE|TBCE|Confirmed DD Gene|Biallelic|Loss of function|Kenny-Caffey syndrome type 1 (KCS1)|10634|244460||HP:0000007 ;HP:0000316 ;HP:0000670 ;HP:0000883 ;HP:0000890 ;HP:0001250 ;HP:0001281 ;HP:0001476 ;HP:0001511 ;HP:0001773 ;HP:0001903 ;HP:0002718 ;HP:0002750 ;HP:0002901 ;HP:0002917 ;HP:0003100 ;HP:0003508 ;HP:0003561 ;HP:0004279 ;HP:0004331 ;HP:0005450 ;HP:0006645 ;HP:0008198 ;HP:0200055
chr1|235613238|235667781|ENSG00000162885.8|ENSG00000162885.8|B3GALNT2|B3GALNT2|Probable DD gene|Biallelic|Loss of function|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11|13515|615181|23453667; 23453667|HP:0000007 ;HP:0000238 ;HP:0000518 ;HP:0000541 ;HP:0000545 ;HP:0000568 ;HP:0000609 ;HP:0000618 ;HP:0002126 ;HP:0002350 ;HP:0003236 ;HP:0003560 ;HP:0006829 ;HP:0007033 ;HP:0007053 ;HP:0007260
chr1|235824341|236046940|ENSG00000143669.9|ENSG00000143669.9|LYST|LYST|Confirmed DD Gene|Biallelic|Loss of function|Chediak-Higashi Syndrome|11048|214500|9215680 ;10482950 ;8751863 ;9215679 ;11857544 ;8896560|HP:0000007 ;HP:0000230 ;HP:0000486 ;HP:0000505 ;HP:0000613 ;HP:0000639 ;HP:0000762 ;HP:0000952 ;HP:0001010 ;HP:0001104 ;HP:0001249 ;HP:0001250 ;HP:0001265 ;HP:0001288 ;HP:0001324 ;HP:0001337 ;HP:0001744 ;HP:0001873 ;HP:0001882 ;HP:0001903 ;HP:0002180 ;HP:0002240 ;HP:0002716 ;HP:0005406 ;HP:0005429 ;HP:0005592 ;HP:0005599 ;HP:0006824 ;HP:0007133 ;HP:0007730 ;HP:0009027
chr1|236958610|237067281|ENSG00000116984.8|ENSG00000116984.8|MTR|MTR|Confirmed DD Gene|Biallelic|Loss of function|methylcobalamin deficiency type G (cblG)|10444|250940|8968736 ;8968737 ;12068375 ;9683607|HP:0000007 ;HP:0001249 ;HP:0001263 ;HP:0001508 ;HP:0001889 ;HP:0002059 ;HP:0002370 ;HP:0003223 ;HP:0003658 ;HP:0008872
chr1|240931554|241520530|ENSG00000182901.11|ENSG00000182901.11|RGS7|RGS7|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10038||21937992|
chr1|241660903|241683061|ENSG00000091483.6|ENSG00000091483.6|FH|FH|Confirmed DD Gene|Biallelic|Loss of function|FUMARASE DEFICIENCY|10666|606812||HP:0000007 ;HP:0000156 ;HP:0000252 ;HP:0000316 ;HP:0000463 ;HP:0000505 ;HP:0000648 ;HP:0000980 ;HP:0001002 ;HP:0001252 ;HP:0001263 ;HP:0001274 ;HP:0001396 ;HP:0001399 ;HP:0001508 ;HP:0001901 ;HP:0001942 ;HP:0002007 ;HP:0002059 ;HP:0002126 ;HP:0002133 ;HP:0002167 ;HP:0002187 ;HP:0002190 ;HP:0003128 ;HP:0003355 ;HP:0004482 ;HP:0005280 ;HP:0007620 ;HP:0100954
chr1|243419320|243663394|ENSG00000054282.11|ENSG00000054282.11|SDCCAG8|SDCCAG8|Confirmed DD Gene|Biallelic|Loss of function|Senior-Loken syndrome 7 (SLSN7)|10692|613615|20835237|HP:0000007 ;HP:0000090 ;HP:0000546
chr1|243651535|244014381|ENSG00000117020.12|ENSG00000117020.12|AKT3|AKT3|Probable DD gene|Mosaic|All missense/in frame|Hemimegalencephaly AKT3|13381|603387|22500628 ;22729224 ;22729224 ;22729224|HP:0000006 ;HP:0000238 ;HP:0000508 ;HP:0000618 ;HP:0000637 ;HP:0001090 ;HP:0001250 ;HP:0001263 ;HP:0001302 ;HP:0001355 ;HP:0001629 ;HP:0001631 ;HP:0001653 ;HP:0002007 ;HP:0002126 ;HP:0002187 ;HP:0002319 ;HP:0002808 ;HP:0002943 ;HP:0003202 ;HP:0006380 ;HP:0007074 ;HP:0008936 ;HP:0010775 ;HP:0100259
chr1|245014468|245027844|ENSG00000153187.12|ENSG00000153187.12|HNRNPU|HNRNPU|Possible DD Gene|Monoallelic|Loss of function|Epileptic encephalopathy|13609||23934111|
chr10|12110971|12165224|ENSG00000181192.7|ENSG00000181192.7|DHTKD1|DHTKD1|Probable DD gene|Biallelic|Loss of function|2-Aminoadipic and 2-Oxoadipic Aciduria|13487|204750|23141293; 23141293|HP:0000007 ;HP:0001256 ;HP:0003355
chr10|15555948|15762124|ENSG00000077943.7|ENSG00000077943.7|ITGA8|ITGA8|Probable DD gene|Biallelic|Loss of function|Renal hypodysplasia/aplasia 1|13729|191830||HP:0000006 ;HP:0000093 ;HP:0000104 ;HP:0000104 ;HP:0000110 ;HP:0000110 ;HP:0000148 ;HP:0000278 ;HP:0000316 ;HP:0000369 ;HP:0000786 ;HP:0000813 ;HP:0000822 ;HP:0001562 ;HP:0001760 ;HP:0002089
chr10|23481256|23483181|ENSG00000168267.5|ENSG00000168267.5|PTF1A|PTF1A|Confirmed DD Gene|Biallelic|Loss of function|Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis|12923|609069|21749365 ;10507728 ;15543146; 15543146|
chr10|23481256|23483181|ENSG00000168267.5|ENSG00000168267.5|PTF1A|PTF1A|Confirmed DD Gene|Biallelic|Cis-regulatory or promotor mutation|Pancreatic agenesis|13681||24212882 |
chr10|26986588|27035727|ENSG00000148459.11|ENSG00000148459.11|PDSS1|PDSS1|Probable DD gene|Biallelic|All missense/in frame|Coenzyme Q10 deficiency, primary, 2	|12813|614651|17332895; 17332895|HP:0000007 ;HP:0000256 ;HP:0000648 ;HP:0000965 ;HP:0001256 ;HP:0001284 ;HP:0001513 ;HP:0001653 ;HP:0001659 ;HP:0002092 ;HP:0002151 ;HP:0009830
chr10|27280843|27389421|ENSG00000107890.12|ENSG00000107890.12|ANKRD26|ANKRD26|Probable DD gene|Monoallelic|5 or 3UTR mutation|Thrombocytopenia 2|10227|188000|21211618 ;10521306|HP:0000006 ;HP:0000978 ;HP:0001873
chr10|27793197|27831143|ENSG00000099246.12|ENSG00000099246.12|RAB18|RAB18|Confirmed DD Gene|Biallelic|Loss of function|Warburg micro syndrome type 3|10889|614222|21473985|
chr10|28064115|28287977|ENSG00000169126.11|ENSG00000169126.11|ARMC4|ARMC4|Confirmed DD Gene|Biallelic|Loss of function|CILIARY DYSKINESIA, PRIMARY, 23; CILD23|13658|615451|23849778|
chr10|28821422|28912041|ENSG00000095787.17|ENSG00000095787.17|WAC|WAC|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13620|||
chr10|31607424|31818742|ENSG00000148516.17|ENSG00000148516.17|ZEB1|ZEB1|Possible DD Gene|Monoallelic|Loss of function|corneal dystrophy Fuchs endothelial type 6|11169|613270||HP:0001131
chr10|31607424|31818742|ENSG00000148516.17|ENSG00000148516.17|ZEB1|ZEB1|Possible DD Gene|Monoallelic|Loss of function|posterior polymorphous corneal dystrophy type 3|11170|609141||HP:0000006 ;HP:0000023 ;HP:0001131 ;HP:0012038
chr10|43572475|43625799|ENSG00000165731.13|ENSG00000165731.13|RET|RET|Both DD and IF|Both|Loss of function|Renal agenesis|10659|191830||HP:0000006 ;HP:0000093 ;HP:0000104 ;HP:0000104 ;HP:0000110 ;HP:0000110 ;HP:0000148 ;HP:0000278 ;HP:0000316 ;HP:0000369 ;HP:0000786 ;HP:0000813 ;HP:0000822 ;HP:0001562 ;HP:0001760 ;HP:0002089
chr10|43572475|43625799|ENSG00000165731.13|ENSG00000165731.13|RET|RET|Both DD and IF|Monoallelic|Activating|Multiple endocrine neoplasia IIB|10083|162300||HP:0000006 ;HP:0000156 ;HP:0000179 ;HP:0000574 ;HP:0000767 ;HP:0000951 ;HP:0001252 ;HP:0001263 ;HP:0001388 ;HP:0001519 ;HP:0001531 ;HP:0001761 ;HP:0002014 ;HP:0002019 ;HP:0002251 ;HP:0002253 ;HP:0002650 ;HP:0002666 ;HP:0002808 ;HP:0002865 ;HP:0003005 ;HP:0003198 ;HP:0003307 ;HP:0003528 ;HP:0003639 ;HP:0005994 ;HP:0006461 ;HP:0008208
chr10|50663414|50747584|ENSG00000225830.6|ENSG00000225830.6|ERCC6|ERCC6|Confirmed DD Gene|Biallelic|Loss of function|Cockayne syndrome type B (CSB)|10381|133540|10196384 ;18446857 ;9443879|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000083 ;HP:0000093 ;HP:0000252 ;HP:0000292 ;HP:0000303 ;HP:0000377 ;HP:0000407 ;HP:0000417 ;HP:0000482 ;HP:0000486 ;HP:0000518 ;HP:0000540 ;HP:0000568 ;HP:0000580 ;HP:0000633 ;HP:0000639 ;HP:0000648 ;HP:0000649 ;HP:0000670 ;HP:0000680 ;HP:0000685 ;HP:0000689 ;HP:0000762 ;HP:0000822 ;HP:0000939 ;HP:0000958 ;HP:0000970 ;HP:0000987 ;HP:0000992 ;HP:0001000 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001271 ;HP:0001324 ;HP:0001337 ;HP:0001376 ;HP:0001511 ;HP:0001518 ;HP:0001525 ;HP:0001744 ;HP:0002059 ;HP:0002135 ;HP:0002240 ;HP:0002343 ;HP:0002545 ;HP:0002684 ;HP:0002808 ;HP:0002866 ;HP:0003130 ;HP:0003224 ;HP:0003278 ;HP:0003469 ;HP:0003510 ;HP:0003758 ;HP:0004334 ;HP:0005328 ;HP:0006958 ;HP:0007346 ;HP:0007352 ;HP:0007676 ;HP:0007759 ;HP:0008839 ;HP:0008897 ;HP:0010234 ;HP:0011675 ;HP:0200077
chr10|50663414|50747584|ENSG00000225830.6|ENSG00000225830.6|ERCC6|ERCC6|Confirmed DD Gene|Biallelic|Loss of function|cerebro-oculo-facio-skeletal syndrome type 1 (COFS1)|10563|214150|20456449 ;18628313 ;10739753|HP:0000007 ;HP:0000213 ;HP:0000252 ;HP:0000340 ;HP:0000343 ;HP:0000347 ;HP:0000426 ;HP:0000490 ;HP:0000518 ;HP:0000568 ;HP:0000581 ;HP:0000598 ;HP:0000639 ;HP:0000939 ;HP:0001007 ;HP:0001250 ;HP:0001252 ;HP:0001274 ;HP:0001321 ;HP:0001508 ;HP:0001838 ;HP:0002171 ;HP:0002187 ;HP:0002673 ;HP:0002751 ;HP:0002804 ;HP:0002987 ;HP:0003819 ;HP:0004681 ;HP:0006380 ;HP:0006610 ;HP:0008125 ;HP:0009473
chr10|50663414|50747584|ENSG00000225830.6|ENSG00000225830.6|ERCC6|ERCC6|Confirmed DD Gene|Biallelic|Loss of function|De Sanctis-Cacchione syndrome (DSC)|10564|278800||HP:0000007 ;HP:0000252 ;HP:0000407 ;HP:0000491 ;HP:0000509 ;HP:0000613 ;HP:0000621 ;HP:0000656 ;HP:0000992 ;HP:0001009 ;HP:0001029 ;HP:0001249 ;HP:0001251 ;HP:0001257 ;HP:0001265 ;HP:0001266 ;HP:0001268 ;HP:0001272 ;HP:0001284 ;HP:0001480 ;HP:0002542 ;HP:0003079 ;HP:0003510 ;HP:0003593 ;HP:0004334 ;HP:0008639
chr10|50663414|50747584|ENSG00000225830.6|ENSG00000225830.6|ERCC6|ERCC6|Confirmed DD Gene|Biallelic|Loss of function|UV-sensitive syndrome (UVS)|10565|600630|7264357|HP:0000007 ;HP:0000958 ;HP:0000992 ;HP:0001009 ;HP:0001425 ;HP:0001480 ;HP:0002664 ;HP:0003224 ;HP:0003593 ;HP:0007623
chr10|69990386|69991871|ENSG00000179774.7|ENSG00000179774.7|ATOH7|ATOH7|Possible DD Gene|Biallelic|Cis-regulatory or promotor mutation|retinal non-attachment congenital non-syndromic|10230|221900||HP:0000007 ;HP:0000555 ;HP:0000565 ;HP:0000594 ;HP:0000667 ;HP:0007899 ;HP:0012043
chr10|70173821|70231879|ENSG00000138346.10|ENSG00000138346.10|DNA2|DNA2|Possible DD Gene|Biallelic|Loss of function|Primordial dwarfism|13705||24389050|
chr10|70748487|70776738|ENSG00000198954.4|ENSG00000198954.4|KIAA1279|KIAA1279|Confirmed DD Gene|Biallelic|Loss of function|Goldberg-Shprintzen megacolon syndrome (GOSHS)|10424|609460|15883926|HP:0000007 ;HP:0000252 ;HP:0000322 ;HP:0000369 ;HP:0000414 ;HP:0000426 ;HP:0000431 ;HP:0000470 ;HP:0000485 ;HP:0000494 ;HP:0000506 ;HP:0000574 ;HP:0000592 ;HP:0000664 ;HP:0001182 ;HP:0001249 ;HP:0002251 ;HP:0002553 ;HP:0006610 ;HP:0200020
chr10|72192071|72207707|ENSG00000156574.5|ENSG00000156574.5|NODAL|NODAL|Confirmed DD Gene|Monoallelic|Loss of function|Heterotaxy Syndrome|11059|207574||
chr10|72642037|72648541|ENSG00000166228.4|ENSG00000166228.4|PCBD1|PCBD1|Confirmed DD Gene|Biallelic|Loss of function|Hyperphenylalaninemia, BH4-deficient, D	|13576|264070|8352282 ;9585615|HP:0000007 ;HP:0001252 ;HP:0001270 ;HP:0001276 ;HP:0001337 ;HP:0004923 ;HP:0008297
chr10|73156691|73575702|ENSG00000107736.15|ENSG00000107736.15|CDH23|CDH23|Confirmed DD Gene|Biallelic|Loss of function|Usher syndrome type 1D|10969|601067|21228398 ;11138009 ;11090341 ;15537665|HP:0000007 ;HP:0000510 ;HP:0001751 ;HP:0008513 ;HP:0008619
chr10|73156691|73575702|ENSG00000107736.15|ENSG00000107736.15|CDH23|CDH23|Confirmed DD Gene|Biallelic|All missense/in frame|deafness autosomal recessive type 12|10188|601386|12075507 ;11090341 ;15829536 ;17850630|HP:0000007 ;HP:0000399 ;HP:0000478
chr10|73576055|73611126|ENSG00000197746.9|ENSG00000197746.9|PSAP|PSAP|Confirmed DD Gene|Biallelic|Loss of function|atypical Krabbe disease|10961|611722|15773042|HP:0000007 ;HP:0001265 ;HP:0001276 ;HP:0002093 ;HP:0002283 ;HP:0002871 ;HP:0002922 ;HP:0003593 ;HP:0003819 ;HP:0007266
chr10|73724123|73773322|ENSG00000122863.5|ENSG00000122863.5|CHST3|CHST3|Confirmed DD Gene|Biallelic|Loss of function|spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)|10884|143095|112567 ;18513679 ;15098240 ;19320654 ;20830804 ;18698629|HP:0000006 ;HP:0000007 ;HP:0000156 ;HP:0000316 ;HP:0000337 ;HP:0000343 ;HP:0000365 ;HP:0000470 ;HP:0000535 ;HP:0000684 ;HP:0000687 ;HP:0000691 ;HP:0001156 ;HP:0001552 ;HP:0001629 ;HP:0001642 ;HP:0001650 ;HP:0001653 ;HP:0001659 ;HP:0001714 ;HP:0001718 ;HP:0001762 ;HP:0001763 ;HP:0002092 ;HP:0002194 ;HP:0002515 ;HP:0002553 ;HP:0002655 ;HP:0002750 ;HP:0002751 ;HP:0002829 ;HP:0002857 ;HP:0002938 ;HP:0002945 ;HP:0002967 ;HP:0002982 ;HP:0003022 ;HP:0003031 ;HP:0003040 ;HP:0003042 ;HP:0003071 ;HP:0003090 ;HP:0003093 ;HP:0003184 ;HP:0003301 ;HP:0003417 ;HP:0003834 ;HP:0004976 ;HP:0005180 ;HP:0006067 ;HP:0006462 ;HP:0006471 ;HP:0006610 ;HP:0007598 ;HP:0008450 ;HP:0008551 ;HP:0008905 ;HP:0009179 ;HP:0009803 ;HP:0009882 ;HP:0010049 ;HP:0010446 ;HP:0010585 ;HP:0100490 ;HP:0100864
chr10|74127098|74385899|ENSG00000107745.12|ENSG00000107745.12|MICU1|MICU1|Confirmed DD Gene|Biallelic|Loss of function|Myopathy with extrapyramidal signs|13741|615673|24336167|
chr10|75910960|76469061|ENSG00000156110.9|ENSG00000156110.9|ADK|ADK|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|11364||21937992|
chr10|76585340|76792380|ENSG00000156650.8|ENSG00000156650.8|KAT6B|KAT6B|Confirmed DD Gene|Monoallelic|Dominant negative|Genitopatellar Syndrome|10697|606170|16761293 ;22265014 ;12210330 ;12949978 ;12210329|HP:0000003 ;HP:0000007 ;HP:0000028 ;HP:0000046 ;HP:0000054 ;HP:0000126 ;HP:0000252 ;HP:0000280 ;HP:0000347 ;HP:0000365 ;HP:0000426 ;HP:0000445 ;HP:0000448 ;HP:0000494 ;HP:0000684 ;HP:0001252 ;HP:0001263 ;HP:0001274 ;HP:0001374 ;HP:0001561 ;HP:0001601 ;HP:0001629 ;HP:0001631 ;HP:0001762 ;HP:0002015 ;HP:0002089 ;HP:0002209 ;HP:0002974 ;HP:0002999 ;HP:0003175 ;HP:0003273 ;HP:0006380 ;HP:0006443 ;HP:0006887 ;HP:0007165 ;HP:0008665 ;HP:0008694 ;HP:0008823 ;HP:0009803
chr10|76585340|76792380|ENSG00000156650.8|ENSG00000156650.8|KAT6B|KAT6B|Confirmed DD Gene|Monoallelic|Loss of function|blepharophimosis/intellectual disability phenotype which is Noonan-like|13452|||
chr10|78629359|79398353|ENSG00000156113.16|ENSG00000156113.16|KCNMA1|KCNMA1|Possible DD Gene|Monoallelic|Activating|Generalized epilepsy and paroxysmal dyskinesia |10091|609446||HP:0000006 ;HP:0002069 ;HP:0002121 ;HP:0007166 ;HP:0010849
chr10|79734907|79789303|ENSG00000148606.8|ENSG00000148606.8|POLR3A|POLR3A|Confirmed DD Gene|Biallelic|Loss of function|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|10751|607694|12605447 ;21855841 ;22036171 ;17159124|HP:0000007 ;HP:0000044 ;HP:0000639 ;HP:0000648 ;HP:0000668 ;HP:0000677 ;HP:0001257 ;HP:0001260 ;HP:0001272 ;HP:0001310 ;HP:0001347 ;HP:0002015 ;HP:0002120 ;HP:0002127 ;HP:0002174 ;HP:0002307 ;HP:0002319 ;HP:0002415 ;HP:0003429 ;HP:0003487 ;HP:0003676 ;HP:0003812 ;HP:0009830
chr10|82031576|82049440|ENSG00000151224.8|ENSG00000151224.8|MAT1A|MAT1A|Probable DD gene|Biallelic|Loss of function|methionine adenosyltransferase deficiency|10954|250850|1527987 ;10677294 ;8770875 ;3812486 ;4421454 ;7229751 ;1683972 ;7560086|HP:0000006 ;HP:0000007 ;HP:0001249 ;HP:0001332 ;HP:0001347 ;HP:0003235 ;HP:0007305 ;HP:0011096
chr10|88428206|88495825|ENSG00000122367.15|ENSG00000122367.15|LDB3|LDB3|Both DD and IF|Monoallelic|All missense/in frame|cardiomyopathy dilated type 1C (CMD1C)|10170|601493||HP:0000006 ;HP:0001635 ;HP:0001645 ;HP:0001712 ;HP:0004308
chr10|88428206|88495825|ENSG00000122367.15|ENSG00000122367.15|LDB3|LDB3|Both DD and IF|Monoallelic|All missense/in frame|left ventricular non-compaction type 3 (LVNC3)|10171|601493||HP:0000006 ;HP:0001635 ;HP:0001645 ;HP:0001712 ;HP:0004308
chr10|88428206|88495825|ENSG00000122367.15|ENSG00000122367.15|LDB3|LDB3|Both DD and IF|Monoallelic|All missense/in frame|myopathy myofibrillar type 4 (MFM4)|10172|609452||HP:0000006 ;HP:0001271 ;HP:0001638 ;HP:0002600 ;HP:0003236 ;HP:0003445 ;HP:0003458 ;HP:0003555 ;HP:0003584 ;HP:0003715 ;HP:0003736 ;HP:0009063 ;HP:0009073
chr10|88810243|88854623|ENSG00000148672.7|ENSG00000148672.7|GLUD1|GLUD1|Confirmed DD Gene|Monoallelic|Activating|Hyperinsulinism-hyperammonemia syndrome	|12347|606762|10636977 ;11214910 ;9571255; 9571255|HP:0000006 ;HP:0000825 ;HP:0001249 ;HP:0001325 ;HP:0002173 ;HP:0003674 ;HP:0007185 ;HP:0008162
chr10|89419370|89507462|ENSG00000198682.8|ENSG00000198682.8|PAPSS2|PAPSS2|Confirmed DD Gene|Biallelic|Loss of function|spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA)|10920|612847|9714015 ;22791835 ;19474428|HP:0000007 ;HP:0000869 ;HP:0000926 ;HP:0001007 ;HP:0001061 ;HP:0001156 ;HP:0002751 ;HP:0002979 ;HP:0003301 ;HP:0004322 ;HP:0004626 ;HP:0009816
chr10|89622870|89731687|ENSG00000171862.5|ENSG00000171862.5|PTEN|PTEN|Confirmed DD Gene|Monoallelic|Loss of function|Cowden disease (CD)|10490|158350|10353779 ;11238682 ;9140396 ;9467011 ;9832031 ;9259288 ;9425889 ;10777358 ;12471211 ;10051160 ;12844284|HP:0000006 ;HP:0000034 ;HP:0000138 ;HP:0000156 ;HP:0000160 ;HP:0000221 ;HP:0000327 ;HP:0000347 ;HP:0000365 ;HP:0000518 ;HP:0000545 ;HP:0000767 ;HP:0000771 ;HP:0000821 ;HP:0000836 ;HP:0000853 ;HP:0000854 ;HP:0000972 ;HP:0001031 ;HP:0001102 ;HP:0001249 ;HP:0001250 ;HP:0001256 ;HP:0001626 ;HP:0002080 ;HP:0002253 ;HP:0002650 ;HP:0002808 ;HP:0002858 ;HP:0003002 ;HP:0003005 ;HP:0003593 ;HP:0004390 ;HP:0004481 ;HP:0006740 ;HP:0010609 ;HP:0100646
chr10|89622870|89731687|ENSG00000171862.5|ENSG00000171862.5|PTEN|PTEN|Confirmed DD Gene|Monoallelic|Loss of function|Lhermitte-Duclos disease (LDD)|10627|158350|10353779 ;11238682 ;9140396 ;9467011 ;9832031 ;9259288 ;9425889 ;10777358 ;12471211 ;10051160 ;12844284|HP:0000006 ;HP:0000034 ;HP:0000138 ;HP:0000156 ;HP:0000160 ;HP:0000221 ;HP:0000327 ;HP:0000347 ;HP:0000365 ;HP:0000518 ;HP:0000545 ;HP:0000767 ;HP:0000771 ;HP:0000821 ;HP:0000836 ;HP:0000853 ;HP:0000854 ;HP:0000972 ;HP:0001031 ;HP:0001102 ;HP:0001249 ;HP:0001250 ;HP:0001256 ;HP:0001626 ;HP:0002080 ;HP:0002253 ;HP:0002650 ;HP:0002808 ;HP:0002858 ;HP:0003002 ;HP:0003005 ;HP:0003593 ;HP:0004390 ;HP:0004481 ;HP:0006740 ;HP:0010609 ;HP:0100646
chr10|89622870|89731687|ENSG00000171862.5|ENSG00000171862.5|PTEN|PTEN|Confirmed DD Gene|Monoallelic|Loss of function|Bannayan-Zonana syndrome (BZS)|10628|153480|9832032 ;9241266 ;12844284|HP:0000006 ;HP:0000040 ;HP:0000156 ;HP:0000256 ;HP:0000486 ;HP:0000494 ;HP:0000538 ;HP:0000646 ;HP:0000750 ;HP:0000767 ;HP:0000872 ;HP:0000956 ;HP:0000957 ;HP:0001012 ;HP:0001014 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001382 ;HP:0001943 ;HP:0002007 ;HP:0002194 ;HP:0002558 ;HP:0002573 ;HP:0002576 ;HP:0002650 ;HP:0002858 ;HP:0003198 ;HP:0003517 ;HP:0003621 ;HP:0004099 ;HP:0004390 ;HP:0007074 ;HP:0007873 ;HP:0008897 ;HP:0012032
chr10|89622870|89731687|ENSG00000171862.5|ENSG00000171862.5|PTEN|PTEN|Confirmed DD Gene|Mosaic|Loss of function|Proteus syndrome|10629|176920||HP:0000256 ;HP:0001010 ;HP:0001012 ;HP:0001028 ;HP:0001140 ;HP:0001528 ;HP:0001548 ;HP:0002176 ;HP:0002342 ;HP:0002751 ;HP:0003416 ;HP:0003745 ;HP:0003764 ;HP:0004472 ;HP:0004490 ;HP:0005465 ;HP:0007403 ;HP:0007483 ;HP:0012032 ;HP:0100764
chr10|89622870|89731687|ENSG00000171862.5|ENSG00000171862.5|PTEN|PTEN|Confirmed DD Gene|Monoallelic|Uncertain|VACTERL association with hydrocephalus (VACTERL-H)|11355|276950|11748304|HP:0000089 ;HP:0000238 ;HP:0002023 ;HP:0002093 ;HP:0002410 ;HP:0002564 ;HP:0003468 ;HP:0003826 ;HP:0009777
chr10|89622870|89731687|ENSG00000171862.5|ENSG00000171862.5|PTEN|PTEN|Confirmed DD Gene|Monoallelic|Uncertain|macrocephaly/autism syndrome (MCEPHAS)|11356|605309|15805158 ;17286265 ;23160955|HP:0000006 ;HP:0000337 ;HP:0000343 ;HP:0000717 ;HP:0001263 ;HP:0001513 ;HP:0002007 ;HP:0003196 ;HP:0004422 ;HP:0005280 ;HP:0005490
chr10|90521163|90537999|ENSG00000204020.5|ENSG00000204020.5|LIPN|LIPN|Probable DD gene|Biallelic|Loss of function|Ichthyosis, lamellar, 4|10768|613943|21439540|HP:0000007 ;HP:0000962
chr10|90694831|90751147|ENSG00000107796.8|ENSG00000107796.8|ACTA2|ACTA2|Both DD and IF|Monoallelic|All missense/in frame|Aortic aneurysm, familial thoracic 6|10156|611788||HP:0000006 ;HP:0004933 ;HP:0004942 ;HP:0005181 ;HP:0011834
chr10|90694831|90751147|ENSG00000107796.8|ENSG00000107796.8|ACTA2|ACTA2|Both DD and IF|Monoallelic|All missense/in frame|Moyamoya disease 5|10184|614042||
chr10|94353043|94415150|ENSG00000138160.4|ENSG00000138160.4|KIF11|KIF11|Confirmed DD Gene|Monoallelic|Loss of function|Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy|10702||22284827|
chr10|95753746|96092580|ENSG00000138193.10|ENSG00000138193.10|PLCE1|PLCE1|Confirmed DD Gene|Biallelic|Loss of function|Nephrotic syndrome, type 3|10795|610725|20591883 ;17086182; 17086182|HP:0000007 ;HP:0000093 ;HP:0000097 ;HP:0000100 ;HP:0000969 ;HP:0001967 ;HP:0003073 ;HP:0003676 ;HP:0003774 ;HP:0011463
chr10|97365696|97416463|ENSG00000059573.4|ENSG00000059573.4|ALDH18A1|ALDH18A1|Confirmed DD Gene|Biallelic|Uncertain|mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL)|11270|612652||HP:0000007 ;HP:0000252 ;HP:0000518 ;HP:0000973 ;HP:0001249 ;HP:0001252 ;HP:0001347 ;HP:0001373 ;HP:0001388 ;HP:0001508 ;HP:0001987 ;HP:0002305 ;HP:0002650 ;HP:0003693 ;HP:0004322 ;HP:0006957
chr10|97423158|97453900|ENSG00000119977.16|ENSG00000119977.16|TCTN3|TCTN3|Confirmed DD Gene|Biallelic|Loss of function|Mohr-Majewski Syndrome|13402|258860|22883145|HP:0000007 ;HP:0000156 ;HP:0000175 ;HP:0000180 ;HP:0000191 ;HP:0000199 ;HP:0000286 ;HP:0000316 ;HP:0000347 ;HP:0000369 ;HP:0000767 ;HP:0001156 ;HP:0001547 ;HP:0001770 ;HP:0002059 ;HP:0002132 ;HP:0004322 ;HP:0005736 ;HP:0009466 ;HP:0010442
chr10|97471536|97637023|ENSG00000138185.12|ENSG00000138185.12|ENTPD1|ENTPD1|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10017||21937992|
chr10|100175955|100206684|ENSG00000107521.14|ENSG00000107521.14|HPS1|HPS1|Confirmed DD Gene|Biallelic|Loss of function|Hermansky-Pudlak Syndrome|12435|203300|10971344 ;8896559 ;9497254 ;8274781 ;9705234|HP:0000007 ;HP:0000083 ;HP:0000225 ;HP:0000421 ;HP:0000639 ;HP:0000978 ;HP:0000995 ;HP:0001022 ;HP:0001107 ;HP:0001141 ;HP:0001425 ;HP:0001480 ;HP:0001638 ;HP:0002027 ;HP:0002037 ;HP:0002091 ;HP:0002206 ;HP:0002573 ;HP:0003010 ;HP:0005576 ;HP:0007603
chr10|100218875|100995619|ENSG00000172987.8|ENSG00000172987.8|HPSE2|HPSE2|Confirmed DD Gene|Biallelic|Loss of function|Urofacial syndrome|10717|236730|19669792 ;20560210 ;19839856 ;11446407|HP:0000007 ;HP:0000010 ;HP:0000028 ;HP:0000072 ;HP:0000126 ;HP:0000805 ;HP:0001999 ;HP:0002019 ;HP:0005346 ;HP:0010481
chr10|101471601|101491857|ENSG00000014919.8|ENSG00000014919.8|COX15|COX15|Confirmed DD Gene|Biallelic|Loss of function|mitochondrial complex IV deficiency (MT-C4D)|10361|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr10|101471601|101491857|ENSG00000014919.8|ENSG00000014919.8|COX15|COX15|Confirmed DD Gene|Biallelic|Loss of function|Leigh syndrome (LS)|10555|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr10|101948055|101989376|ENSG00000213341.6|ENSG00000213341.6|CHUK|CHUK|Confirmed DD Gene|Biallelic|Loss of function|cocoon syndrome (COCOS)|10418|613630|20961246|HP:0000007 ;HP:0000042 ;HP:0000252 ;HP:0000963 ;HP:0001539 ;HP:0009816 ;HP:0009824 ;HP:0009892 ;HP:0009939 ;HP:0010808 ;HP:0011136
chr10|102495360|102589698|ENSG00000075891.17|ENSG00000075891.17|PAX2|PAX2|Confirmed DD Gene|Monoallelic|Loss of function|renal-coloboma syndrome (RCS)|11119|120330|11093271 ;9760197 ;2644560 ;11461952 ;7795640 ;9106533 ;3377002|HP:0000003 ;HP:0000006 ;HP:0000076 ;HP:0000085 ;HP:0000089 ;HP:0000093 ;HP:0000407 ;HP:0000480 ;HP:0000518 ;HP:0000533 ;HP:0000541 ;HP:0000568 ;HP:0000588 ;HP:0000608 ;HP:0000787 ;HP:0000969 ;HP:0001144 ;HP:0001249 ;HP:0001250 ;HP:0002171 ;HP:0003774 ;HP:0003774 ;HP:0004712 ;HP:0007099 ;HP:0011509 ;HP:0012019
chr10|103370423|103455052|ENSG00000107829.9|ENSG00000107829.9|FBXW4|FBXW4|Possible DD Gene|Monoallelic|Part of contiguous gene duplication|split-hand/foot malformation type 3 (SHFM3)|11197|246560||HP:0000006 ;HP:0000007 ;HP:0000089 ;HP:0000156 ;HP:0000160 ;HP:0000175 ;HP:0000308 ;HP:0000327 ;HP:0000377 ;HP:0000545 ;HP:0001249 ;HP:0001807 ;HP:0008404
chr10|103989943|104001231|ENSG00000107859.5|ENSG00000107859.5|PITX3|PITX3|Confirmed DD Gene|Monoallelic|Uncertain|cataract autosomal dominant (ADC)|11383|604219||
chr10|103989943|104001231|ENSG00000107859.5|ENSG00000107859.5|PITX3|PITX3|Confirmed DD Gene|Monoallelic|Loss of function|anterior segment mesenchymal dysgenesis (ASMD)|11139|107250||HP:0000006 ;HP:0001115 ;HP:0001115 ;HP:0001115 ;HP:0001115 ;HP:0007700 ;HP:0007700 ;HP:0007759
chr10|103989943|104001231|ENSG00000107859.5|ENSG00000107859.5|PITX3|PITX3|Confirmed DD Gene|Monoallelic|Loss of function|cataract posterior polar type 4 (CTPP4)|11140|610623|15286169|HP:0000006
chr10|112327449|112364394|ENSG00000108055.9|ENSG00000108055.9|SMC3|SMC3|Possible DD Gene|Monoallelic|Uncertain|Cornelia de Lange syndrome type 3 (CDLS3) |11280|610759||HP:0000213 ;HP:0000218 ;HP:0000426 ;HP:0000527 ;HP:0000545 ;HP:0000664 ;HP:0001007 ;HP:0001249 ;HP:0001263 ;HP:0001773 ;HP:0002020 ;HP:0002553 ;HP:0002996 ;HP:0004209 ;HP:0004322 ;HP:0008872 ;HP:0009623 ;HP:0200055
chr10|112679301|112773425|ENSG00000108061.7|ENSG00000108061.7|SHOC2|SHOC2|Confirmed DD Gene|Monoallelic|Activating|Noonan-like syndrome with loose anagen hair|10096|607721|19684605|HP:0000006 ;HP:0000256 ;HP:0000316 ;HP:0000358 ;HP:0000369 ;HP:0000465 ;HP:0000470 ;HP:0000486 ;HP:0000752 ;HP:0000964 ;HP:0001249 ;HP:0001611 ;HP:0001629 ;HP:0001631 ;HP:0001639 ;HP:0001642 ;HP:0002209 ;HP:0004322 ;HP:0008064 ;HP:0011220
chr10|119301955|119309056|ENSG00000170370.10|ENSG00000170370.10|EMX2|EMX2|Possible DD Gene|Monoallelic|Loss of function|Familial Schizencephaly, EMX2-Related|12189|269160||
chr10|122610687|122669036|ENSG00000120008.11|ENSG00000120008.11|WDR11|WDR11|Confirmed DD Gene|Monoallelic|All missense/in frame|Kallmann Syndrome|10135|||
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Activating|Crouzon syndrome (CS)|10060|123500|15523492 ;7581378 ;7874170 ;7655462 ;8528214 ;9677057 ;7987400 ;9152842 ;7607643 ;17621648 ;22038757|HP:0000006 ;HP:0000248 ;HP:0000303 ;HP:0000316 ;HP:0000327 ;HP:0000405 ;HP:0000413 ;HP:0000486 ;HP:0000505 ;HP:0000509 ;HP:0000586 ;HP:0000648 ;HP:0000678 ;HP:0001249 ;HP:0001250 ;HP:0001739 ;HP:0002007 ;HP:0003319 ;HP:0004440 ;HP:0004442 ;HP:0004443 ;HP:0010535
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Activating|Jackson-Weiss syndrome (JWS)|10069|123150|7874170|HP:0000006 ;HP:0000272 ;HP:0001363 ;HP:0001783 ;HP:0004691 ;HP:0008080 ;HP:0008122 ;HP:0010055 ;HP:0010743
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Activating|Apert syndrome (APRS)|10070|101200|9002682 ;9973282 ;7719344|HP:0000006 ;HP:0000028 ;HP:0000126 ;HP:0000148 ;HP:0000175 ;HP:0000189 ;HP:0000193 ;HP:0000238 ;HP:0000239 ;HP:0000244 ;HP:0000270 ;HP:0000272 ;HP:0000303 ;HP:0000316 ;HP:0000337 ;HP:0000348 ;HP:0000365 ;HP:0000389 ;HP:0000452 ;HP:0000453 ;HP:0000486 ;HP:0000494 ;HP:0000586 ;HP:0000684 ;HP:0000689 ;HP:0001061 ;HP:0001162 ;HP:0001177 ;HP:0001249 ;HP:0001274 ;HP:0001331 ;HP:0001355 ;HP:0001507 ;HP:0001629 ;HP:0002021 ;HP:0002032 ;HP:0002119 ;HP:0002623 ;HP:0003041 ;HP:0004397 ;HP:0004440 ;HP:0004468 ;HP:0004487 ;HP:0004635 ;HP:0005048 ;HP:0005280 ;HP:0007099 ;HP:0007291 ;HP:0007343 ;HP:0008111 ;HP:0009642 ;HP:0010554 ;HP:0100702
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Activating|acrocephalosyndactyly type V (ACS5)|10071|101600||HP:0000006 ;HP:0000156 ;HP:0000238 ;HP:0000244 ;HP:0000303 ;HP:0000316 ;HP:0000327 ;HP:0000452 ;HP:0000453 ;HP:0000486 ;HP:0000494 ;HP:0000586 ;HP:0000678 ;HP:0001159 ;HP:0001249 ;HP:0002308 ;HP:0002676 ;HP:0002780 ;HP:0003041 ;HP:0003070 ;HP:0003196 ;HP:0003795 ;HP:0004440 ;HP:0005280 ;HP:0005347 ;HP:0006110 ;HP:0010055 ;HP:0011304
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Activating|Beare-Stevenson cutis gyrata syndrome (BSCGS)|10072|123790|8696350 ;19610084|HP:0000006 ;HP:0000048 ;HP:0000189 ;HP:0000238 ;HP:0000272 ;HP:0000316 ;HP:0000368 ;HP:0000452 ;HP:0000453 ;HP:0000494 ;HP:0000520 ;HP:0000956 ;HP:0001263 ;HP:0001274 ;HP:0001363 ;HP:0001377 ;HP:0001545 ;HP:0001792 ;HP:0002098 ;HP:0002676 ;HP:0003246 ;HP:0004450 ;HP:0007517
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Uncertain|familial scaphocephaly syndrome (FSPC)|11302|609579||
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Uncertain|lacrimo-auriculo-dento-digital syndrome (LADDS)|11303|149730||HP:0000006 ;HP:0000104 ;HP:0000198 ;HP:0000217 ;HP:0000316 ;HP:0000337 ;HP:0000378 ;HP:0000410 ;HP:0000494 ;HP:0000495 ;HP:0000506 ;HP:0000522 ;HP:0000579 ;HP:0000620 ;HP:0000629 ;HP:0000668 ;HP:0000670 ;HP:0000680 ;HP:0000974 ;HP:0001092 ;HP:0001233 ;HP:0001245 ;HP:0002984 ;HP:0003022 ;HP:0003974 ;HP:0004209 ;HP:0005707 ;HP:0006297 ;HP:0007656 ;HP:0007732 ;HP:0007892 ;HP:0007900 ;HP:0008743 ;HP:0009462 ;HP:0009637 ;HP:0009740 ;HP:0009741 ;HP:0009944 ;HP:0010055 ;HP:0011065 ;HP:0100258 ;HP:0100583
chr10|123237848|123357972|ENSG00000066468.16|ENSG00000066468.16|FGFR2|FGFR2|Confirmed DD Gene|Monoallelic|Uncertain|Antley-Bixler syndrome (ABS)|11304|207410||HP:0000007 ;HP:0000059 ;HP:0000063 ;HP:0000148 ;HP:0000238 ;HP:0000248 ;HP:0000260 ;HP:0000272 ;HP:0000343 ;HP:0000377 ;HP:0000402 ;HP:0000453 ;HP:0000520 ;HP:0000774 ;HP:0000792 ;HP:0001166 ;HP:0001249 ;HP:0001371 ;HP:0001631 ;HP:0001838 ;HP:0002007 ;HP:0002781 ;HP:0002980 ;HP:0003031 ;HP:0003041 ;HP:0003275 ;HP:0004440 ;HP:0004443 ;HP:0005280
chr10|127477146|127511817|ENSG00000188690.8|ENSG00000188690.8|UROS|UROS|Confirmed DD Gene|Biallelic|Loss of function|Congenital Erythropoietic Porphyria|13328|263700|19965637 ;1733834 ;2331520 ;8946173 ;12060141 ;11254675 ;9834209 ;7860775|HP:0000007 ;HP:0000153 ;HP:0000509 ;HP:0000559 ;HP:0000938 ;HP:0000953 ;HP:0000987 ;HP:0000992 ;HP:0000998 ;HP:0001010 ;HP:0001072 ;HP:0001081 ;HP:0001596 ;HP:0001744 ;HP:0001873 ;HP:0001878 ;HP:0002756 ;HP:0002797 ;HP:0002953 ;HP:0003577 ;HP:0004322 ;HP:0009473 ;HP:0011457 ;HP:0100324
chr11|298200|299526|ENSG00000206013.2|ENSG00000206013.2|IFITM5|IFITM5|Confirmed DD Gene|Monoallelic|5 or 3UTR mutation|Osteogenesis Imperfecta Type V|13399|610967|22863190; 22863195|HP:0000006 ;HP:0000164 ;HP:0000478 ;HP:0000926 ;HP:0000938 ;HP:0001939 ;HP:0002644 ;HP:0002645 ;HP:0002757 ;HP:0004322 ;HP:0004586 ;HP:0005084 ;HP:0006394 ;HP:0008422
chr11|532242|537287|ENSG00000174775.12|ENSG00000174775.12|HRAS|HRAS|Confirmed DD Gene|Monoallelic|Activating|Costello syndrome|10065|218040|16170316 ;19995790 ;18247425 ;16443854 ;18039947 ;16835863 ;17412879 ;17054105 ;17468812 ;17056636|HP:0000006 ;HP:0000083 ;HP:0000156 ;HP:0000158 ;HP:0000179 ;HP:0000238 ;HP:0000256 ;HP:0000260 ;HP:0000280 ;HP:0000286 ;HP:0000293 ;HP:0000307 ;HP:0000316 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000463 ;HP:0000465 ;HP:0000470 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000768 ;HP:0000956 ;HP:0001000 ;HP:0001187 ;HP:0001249 ;HP:0001263 ;HP:0001508 ;HP:0001548 ;HP:0001552 ;HP:0001561 ;HP:0001598 ;HP:0001609 ;HP:0001622 ;HP:0001629 ;HP:0001631 ;HP:0001634 ;HP:0001639 ;HP:0001642 ;HP:0001699 ;HP:0001762 ;HP:0001771 ;HP:0001808 ;HP:0001814 ;HP:0001869 ;HP:0001943 ;HP:0002021 ;HP:0002033 ;HP:0002059 ;HP:0002093 ;HP:0002107 ;HP:0002119 ;HP:0002212 ;HP:0002779 ;HP:0002780 ;HP:0002859 ;HP:0002862 ;HP:0002870 ;HP:0002996 ;HP:0003745 ;HP:0003764 ;HP:0004322 ;HP:0005280 ;HP:0005989 ;HP:0006191 ;HP:0007099 ;HP:0008070 ;HP:0009588 ;HP:0011675 ;HP:0012081
chr11|532242|537287|ENSG00000174775.12|ENSG00000174775.12|HRAS|HRAS|Confirmed DD Gene|Monoallelic|Activating|congenital myopathy with excess of muscle spindles (CMEMS)|10081|218040|16170316 ;19995790 ;18247425 ;16443854 ;18039947 ;16835863 ;17412879 ;17054105 ;17468812 ;17056636|HP:0000006 ;HP:0000083 ;HP:0000156 ;HP:0000158 ;HP:0000179 ;HP:0000238 ;HP:0000256 ;HP:0000260 ;HP:0000280 ;HP:0000286 ;HP:0000293 ;HP:0000307 ;HP:0000316 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000463 ;HP:0000465 ;HP:0000470 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000768 ;HP:0000956 ;HP:0001000 ;HP:0001187 ;HP:0001249 ;HP:0001263 ;HP:0001508 ;HP:0001548 ;HP:0001552 ;HP:0001561 ;HP:0001598 ;HP:0001609 ;HP:0001622 ;HP:0001629 ;HP:0001631 ;HP:0001634 ;HP:0001639 ;HP:0001642 ;HP:0001699 ;HP:0001762 ;HP:0001771 ;HP:0001808 ;HP:0001814 ;HP:0001869 ;HP:0001943 ;HP:0002021 ;HP:0002033 ;HP:0002059 ;HP:0002093 ;HP:0002107 ;HP:0002119 ;HP:0002212 ;HP:0002779 ;HP:0002780 ;HP:0002859 ;HP:0002862 ;HP:0002870 ;HP:0002996 ;HP:0003745 ;HP:0003764 ;HP:0004322 ;HP:0005280 ;HP:0005989 ;HP:0006191 ;HP:0007099 ;HP:0008070 ;HP:0009588 ;HP:0011675 ;HP:0012081
chr11|644233|706715|ENSG00000177030.12|ENSG00000177030.12|DEAF1|DEAF1|Confirmed DD Gene|Monoallelic|Loss of function|Mental retardation, autosomal dominant 24|10369|615828|21076407|
chr11|790475|798316|ENSG00000177542.6|ENSG00000177542.6|SLC25A22|SLC25A22|Probable DD gene|Biallelic|All missense/in frame|Epileptic Encephalopathy, Early Infantile, 3|10205|319213||
chr11|818902|825573|ENSG00000177666.11|ENSG00000177666.11|PNPLA2|PNPLA2|Probable DD gene|Biallelic|Loss of function|Neutral lipid storage disease with myopathy|10797|610717|17187067 ;22832386|HP:0000007 ;HP:0002240 ;HP:0003198 ;HP:0003236 ;HP:0003546 ;HP:0003701 ;HP:0009058
chr11|832843|839831|ENSG00000177697.13|ENSG00000177697.13|CD151|CD151|Probable DD gene|Biallelic|Loss of function|nephropathy with pretibial epidermolysis bullosa and deafness|10968|609057|15265795|HP:0000007 ;HP:0000123 ;HP:0000407 ;HP:0003774 ;HP:0007678 ;HP:0008404 ;HP:0011906 ;HP:0012221
chr11|1773982|1785222|ENSG00000117984.8|ENSG00000117984.8|CTSD|CTSD|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 10 (CLN10)|10838|610127|16670177 ;16685649|HP:0000007 ;HP:0000252 ;HP:0000340 ;HP:0000369 ;HP:0000431 ;HP:0000510 ;HP:0000572 ;HP:0001105 ;HP:0001251 ;HP:0001257 ;HP:0001272 ;HP:0001939 ;HP:0002059 ;HP:0002063 ;HP:0002074 ;HP:0002093 ;HP:0002104 ;HP:0002133 ;HP:0002529 ;HP:0003577 ;HP:0005458 ;HP:0006887 ;HP:0010864
chr11|2150342|2170833|ENSG00000167244.13|ENSG00000167244.13|IGF2|IGF2|Confirmed DD Gene|Imprinted|Activating|Beckwith-Wiedemann Syndrome|10104|130650||HP:0000006 ;HP:0000028 ;HP:0000105 ;HP:0000150 ;HP:0000158 ;HP:0000239 ;HP:0000269 ;HP:0000280 ;HP:0000520 ;HP:0000598 ;HP:0001305 ;HP:0001528 ;HP:0001539 ;HP:0001540 ;HP:0001548 ;HP:0001638 ;HP:0001640 ;HP:0001998 ;HP:0002240 ;HP:0002667 ;HP:0002884 ;HP:0003247 ;HP:0005616 ;HP:0006277 ;HP:0006744 ;HP:0008186
chr11|2150342|2170833|ENSG00000167244.13|ENSG00000167244.13|IGF2|IGF2|Confirmed DD Gene|Imprinted|Loss of function|Chromosome 11p15.5-Related Russell-Silver Syndrome|11045|180860||HP:0000047 ;HP:0000069 ;HP:0000270 ;HP:0000325 ;HP:0000347 ;HP:0000592 ;HP:0000824 ;HP:0000957 ;HP:0001159 ;HP:0001263 ;HP:0001402 ;HP:0001511 ;HP:0001518 ;HP:0001626 ;HP:0001760 ;HP:0002007 ;HP:0002667 ;HP:0002714 ;HP:0002750 ;HP:0003162 ;HP:0003745 ;HP:0004209 ;HP:0004220 ;HP:0004227 ;HP:0005461 ;HP:0010957 ;HP:0100617
chr11|2185159|2193107|ENSG00000180176.10|ENSG00000180176.10|TH|TH|Confirmed DD Gene|Biallelic|Loss of function|Dopa-Responsive Dystonia|13238|605407|10585338 ;9732974 ;7814018 ;8817341 ;21937992 ;11246459 ;9703425 ;17696123; 8528210|HP:0000007 ;HP:0000298 ;HP:0000508 ;HP:0000750 ;HP:0001270 ;HP:0001300 ;HP:0001336 ;HP:0001337 ;HP:0002063 ;HP:0002066 ;HP:0002375 ;HP:0002451 ;HP:0002548 ;HP:0003593 ;HP:0003785 ;HP:0003828 ;HP:0007087 ;HP:0008936
chr11|2465914|2870339|ENSG00000053918.11|ENSG00000053918.11|KCNQ1|KCNQ1|Confirmed DD Gene|Biallelic|Loss of function|Jervell and Lange-Nielsen syndrome type 1|10989|220400||HP:0000007 ;HP:0001279 ;HP:0001645 ;HP:0001657 ;HP:0001664 ;HP:0008527
chr11|2904443|2907111|ENSG00000129757.8|ENSG00000129757.8|CDKN1C|CDKN1C|Confirmed DD Gene|Imprinted|Loss of function|Beckwith-Wiedemann Syndrome|11969|130650|9341892 ;8841187 ;20503313 ;14997421|HP:0000006 ;HP:0000028 ;HP:0000105 ;HP:0000150 ;HP:0000158 ;HP:0000239 ;HP:0000269 ;HP:0000280 ;HP:0000520 ;HP:0000598 ;HP:0001305 ;HP:0001528 ;HP:0001539 ;HP:0001540 ;HP:0001548 ;HP:0001638 ;HP:0001640 ;HP:0001998 ;HP:0002240 ;HP:0002667 ;HP:0002884 ;HP:0003247 ;HP:0005616 ;HP:0006277 ;HP:0006744 ;HP:0008186
chr11|3818954|3847601|ENSG00000148985.15|ENSG00000148985.15|PGAP2|PGAP2|Confirmed DD Gene|Biallelic|All missense/in frame|Intellectual disability|13524|||
chr11|3875757|4114439|ENSG00000167323.5|ENSG00000167323.5|STIM1|STIM1|Possible DD Gene|Monoallelic|Activating|Tubular-Aggregate Myopathy|13510|160565|23332920|HP:0000006 ;HP:0000662 ;HP:0002522 ;HP:0002600 ;HP:0003198 ;HP:0003236 ;HP:0003388 ;HP:0003394 ;HP:0003552 ;HP:0003557 ;HP:0003581 ;HP:0003677 ;HP:0003701 ;HP:0003738 ;HP:0009005
chr11|6411655|6416228|ENSG00000166311.5|ENSG00000166311.5|SMPD1|SMPD1|Confirmed DD Gene|Biallelic|Loss of function|Niemann-Pick disease type A (NPDA)|10333|257200|1718266 ;8401540 ;1391960 ;2023926 ;19405096 ;8051942 ;1301192|HP:0000007 ;HP:0000939 ;HP:0000991 ;HP:0001249 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001265 ;HP:0001324 ;HP:0001508 ;HP:0001538 ;HP:0001744 ;HP:0001935 ;HP:0001982 ;HP:0002013 ;HP:0002019 ;HP:0002063 ;HP:0002205 ;HP:0002207 ;HP:0002240 ;HP:0002305 ;HP:0002716 ;HP:0003593 ;HP:0003609 ;HP:0004322 ;HP:0004333 ;HP:0006579 ;HP:0006579 ;HP:0008872 ;HP:0010729
chr11|6411655|6416228|ENSG00000166311.5|ENSG00000166311.5|SMPD1|SMPD1|Confirmed DD Gene|Biallelic|Loss of function|Niemann-Pick disease type B (NPDB)|10544|607616|12607113 ;1885770 ;9266408 ;12369017 ;1301192|HP:0000007 ;HP:0001103 ;HP:0001744 ;HP:0001982 ;HP:0002094 ;HP:0002155 ;HP:0002205 ;HP:0002207 ;HP:0002240 ;HP:0003141 ;HP:0003233 ;HP:0003609 ;HP:0003621 ;HP:0003812 ;HP:0004322 ;HP:0004333
chr11|6634000|6640692|ENSG00000166340.10|ENSG00000166340.10|TPP1|TPP1|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 2 (CLN2)|10873|204500|10665500 ;17959406 ;12414822 ;9295267 ;10330339 ;12376936|HP:0000007 ;HP:0000529 ;HP:0000546 ;HP:0000550 ;HP:0000750 ;HP:0001250 ;HP:0001251 ;HP:0001311 ;HP:0001336 ;HP:0002059 ;HP:0002074 ;HP:0002376 ;HP:0003205 ;HP:0003463
chr11|6642556|6677085|ENSG00000166341.6|ENSG00000166341.6|DCHS1|DCHS1|Confirmed DD Gene|Biallelic|Loss of function|periventricular neuronal heterotopia|13674||24056717|
chr11|13513602|13517728|ENSG00000152266.2|ENSG00000152266.2|PTH|PTH|Probable DD gene|Biallelic|Loss of function|Familial Isolated Hypoparathyroidism|12924|146200|3005800 ;1302009 ;10523031; 2212001|HP:0000006 ;HP:0000518 ;HP:0000829 ;HP:0001250 ;HP:0001281 ;HP:0002514 ;HP:0002901 ;HP:0002905
chr11|17407406|17410878|ENSG00000187486.5|ENSG00000187486.5|KCNJ11|KCNJ11|Confirmed DD Gene|Biallelic||Diabetes Mellitus, KCNJ11-Related Transient Neonatal|12535|261090|8923010|
chr11|17407406|17410878|ENSG00000187486.5|ENSG00000187486.5|KCNJ11|KCNJ11|Confirmed DD Gene|Biallelic|Loss of function|Familial Hyperinsulinism|12536|3272|9356020|
chr11|20620946|20680831|ENSG00000165970.7|ENSG00000165970.7|SLC6A5|SLC6A5|Confirmed DD Gene|Biallelic|Loss of function|Hyperekplexia|10787|149400||HP:0000006 ;HP:0000007 ;HP:0000023 ;HP:0001250 ;HP:0001276 ;HP:0001336 ;HP:0001537 ;HP:0002104 ;HP:0002267 ;HP:0002359 ;HP:0002375 ;HP:0002827 ;HP:0002835 ;HP:0003593
chr11|22214722|22304903|ENSG00000171714.10|ENSG00000171714.10|ANO5|ANO5|Both DD and IF|Monoallelic|Activating|gnathodiaphyseal dysplasia (GDD)|10097|166260||HP:0000006 ;HP:0000938 ;HP:0002659 ;HP:0005045 ;HP:0006487
chr11|22214722|22304903|ENSG00000171714.10|ENSG00000171714.10|ANO5|ANO5|Both DD and IF|Biallelic|Loss of function|limb-girdle muscular dystrophy type 2L (LGMD2L)|10878|611307||HP:0000007 ;HP:0003236 ;HP:0003326 ;HP:0003458 ;HP:0003547 ;HP:0003560 ;HP:0003560 ;HP:0003676 ;HP:0003701 ;HP:0003749 ;HP:0003828 ;HP:0008981 ;HP:0010628
chr11|22214722|22304903|ENSG00000171714.10|ENSG00000171714.10|ANO5|ANO5|Both DD and IF|Biallelic|Loss of function|miyoshi muscular dystrophy type 3 (MMD3)|10879|613319||HP:0000007 ;HP:0002460 ;HP:0003236 ;HP:0003551 ;HP:0003581 ;HP:0003828 ;HP:0009046 ;HP:0009050
chr11|22644079|22647387|ENSG00000183161.3|ENSG00000183161.3|FANCF|FANCF|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia, complementation group F|10653|603467|10615118 ;9382107|
chr11|30344598|30359774|ENSG00000152219.4|ENSG00000152219.4|ARL14EP|ARL14EP|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10005||21937992|
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Loss of function|aniridia (AN)|11120|106210||HP:0000006 ;HP:0000501 ;HP:0000518 ;HP:0000526 ;HP:0000609 ;HP:0000639 ;HP:0007750 ;HP:0007759
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Uncertain|Peters anomaly (PAN)|11391|604229||HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0001087 ;HP:0007957
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Loss of function|foveal hypoplasia (FOVHYP)|11134|136520|9931324 ;15629294|HP:0000006 ;HP:0000505 ;HP:0006934 ;HP:0007750 ;HP:0007819
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Loss of function|keratitis hereditary (KERH)|11135|148190|7668281|HP:0000006 ;HP:0000491 ;HP:0007759
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Loss of function|bilateral optic nerve hypoplasia (BONH)|11136|165550|12721955|HP:0000006 ;HP:0000505 ;HP:0000609
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Loss of function|coloboma of optic nerve (COLON)|11137|120430|12721955|HP:0000006 ;HP:0000541 ;HP:0000588
chr11|31806340|31839509|ENSG00000007372.16|ENSG00000007372.16|PAX6|PAX6|Confirmed DD Gene|Monoallelic|Loss of function|aniridia cerebellar ataxia and mental deficiency (ACAMD)|11138|206700|17595013 ;17148041|HP:0000007 ;HP:0000526 ;HP:0001249 ;HP:0001251 ;HP:0001321
chr11|32409321|32457176|ENSG00000184937.8|ENSG00000184937.8|WT1|WT1|Confirmed DD Gene|Monoallelic|Dominant negative|Denys-Drash syndrome|10248|194080|1302008 ;1327525 ;8388765 ;1655284|HP:0000006 ;HP:0000033 ;HP:0000037 ;HP:0000061 ;HP:0000097 ;HP:0000100 ;HP:0000112 ;HP:0000133 ;HP:0000149 ;HP:0000776 ;HP:0000822 ;HP:0001428 ;HP:0002667 ;HP:0003248 ;HP:0003774 ;HP:0004728 ;HP:0010459
chr11|32409321|32457176|ENSG00000184937.8|ENSG00000184937.8|WT1|WT1|Confirmed DD Gene|Monoallelic|Dominant negative|Frasier Syndrome Frasier syndrome Frasier syndrome|10249|136680|1658787 ;9499425 ;10571943|HP:0000006 ;HP:0000037 ;HP:0000097 ;HP:0000100 ;HP:0000133 ;HP:0000149 ;HP:0000786 ;HP:0001428 ;HP:0003774
chr11|34073230|34122703|ENSG00000135387.15|ENSG00000135387.15|CAPRIN1|CAPRIN1|Possible DD Gene|Monoallelic|Loss of function|Autism or Intellectual disability|13639||23849776|
chr11|34937376|35042138|ENSG00000110435.7|ENSG00000110435.7|PDHX|PDHX|Confirmed DD Gene|Biallelic|Loss of function|Lacticacidemia due to PDX1 deficiency	|12811|245349|11935326 ;12557299 ;8584393 ;9467010 ;8229524 ;17152059 ;21937992 ;16566017; 9399911|HP:0000007 ;HP:0000218 ;HP:0000243 ;HP:0000252 ;HP:0000286 ;HP:0000316 ;HP:0000496 ;HP:0000648 ;HP:0000767 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001258 ;HP:0001263 ;HP:0001319 ;HP:0001332 ;HP:0001338 ;HP:0001942 ;HP:0002317 ;HP:0002416 ;HP:0002510 ;HP:0002928 ;HP:0003128 ;HP:0003348 ;HP:0003542 ;HP:0003577 ;HP:0003828 ;HP:0007010 ;HP:0007015
chr11|44117099|44266979|ENSG00000151348.9|ENSG00000151348.9|EXT2|EXT2|Confirmed DD Gene|Monoallelic|Loss of function|Exostoses, multiple, type 2|11147|133701||HP:0000006 ;HP:0000896 ;HP:0000918 ;HP:0002318 ;HP:0002812 ;HP:0002857 ;HP:0003068 ;HP:0003105 ;HP:0003276 ;HP:0003406 ;HP:0003621 ;HP:0004322 ;HP:0006765 ;HP:0010049
chr11|44281994|44331716|ENSG00000052850.5|ENSG00000052850.5|ALX4|ALX4|Confirmed DD Gene|Biallelic|Loss of function|FRONTONASAL DYSPLASIA 2|11805|605420||
chr11|44281994|44331716|ENSG00000052850.5|ENSG00000052850.5|ALX4|ALX4|Confirmed DD Gene|Monoallelic|Loss of function|Parietal Foramina 2|11806|221704||
chr11|45825623|45834566|ENSG00000181830.7|ENSG00000181830.7|SLC35C1|SLC35C1|Confirmed DD Gene|Biallelic|Loss of function|congenital disorder of glycosylation type 2C (CDG2C)|10397|266265|11326280 ;11326279|HP:0000007 ;HP:0000252 ;HP:0000388 ;HP:0000704 ;HP:0001250 ;HP:0001252 ;HP:0001574 ;HP:0001939 ;HP:0002090 ;HP:0002120 ;HP:0004322 ;HP:0005400 ;HP:0006887 ;HP:0010864
chr11|45931220|45940363|ENSG00000121680.11|ENSG00000121680.11|PEX16|PEX16|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 9 (PBD-CG9)|10862|603360||
chr11|45931220|45940363|ENSG00000121680.11|ENSG00000121680.11|PEX16|PEX16|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10863|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr11|45950871|46142985|ENSG00000135365.11|ENSG00000135365.11|PHF21A|PHF21A|Probable DD gene|Monoallelic|Loss of function|Potocki-Shaffer syndrome	|13389|601224||HP:0000054 ;HP:0000248 ;HP:0000262 ;HP:0000286 ;HP:0000322 ;HP:0000337 ;HP:0000348 ;HP:0000430 ;HP:0000431 ;HP:0000494 ;HP:0000506 ;HP:0000954 ;HP:0001156 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001466 ;HP:0002645 ;HP:0002697 ;HP:0002714 ;HP:0002762 ;HP:0003196 ;HP:0004439 ;HP:0005338 ;HP:0005650
chr11|46878419|46940193|ENSG00000134569.5|ENSG00000134569.5|LRP4|LRP4|Confirmed DD Gene|Biallelic|Loss of function|Cenani-Lenz syndactyly syndrome (CLSS)|10436|212780|11260233 ;9182770 ;18978656 ;20381006 ;14577675 ;10756427 ;12868467|HP:0000007 ;HP:0000089 ;HP:0000104 ;HP:0000316 ;HP:0000347 ;HP:0000494 ;HP:0001159 ;HP:0002984 ;HP:0003022 ;HP:0011220
chr11|47236493|47260767|ENSG00000134574.7|ENSG00000134574.7|DDB2|DDB2|Confirmed DD Gene|Biallelic|Loss of function|Xeroderma pigmentosum, group E, DDB-negative subtype (XP-E)|10645|278740|10469312 ;8798680 ;12812979|HP:0000007 ;HP:0000491 ;HP:0000509 ;HP:0000613 ;HP:0000621 ;HP:0000656 ;HP:0000992 ;HP:0001009 ;HP:0001029 ;HP:0002671 ;HP:0002861 ;HP:0003079 ;HP:0004334 ;HP:0006739
chr11|47428683|47438047|ENSG00000165915.9|ENSG00000165915.9|SLC39A13|SLC39A13|Confirmed DD Gene|Biallelic|All missense/in frame|Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS)|10178|612350|18985159 ;18513683|HP:0000007 ;HP:0000193 ;HP:0000218 ;HP:0000494 ;HP:0000592 ;HP:0000668 ;HP:0000684 ;HP:0000689 ;HP:0000926 ;HP:0000938 ;HP:0000963 ;HP:0000974 ;HP:0000978 ;HP:0001073 ;HP:0001182 ;HP:0001388 ;HP:0001763 ;HP:0002515 ;HP:0003016 ;HP:0003071 ;HP:0003301 ;HP:0003370 ;HP:0003393 ;HP:0006429 ;HP:0008848 ;HP:0009803 ;HP:0010049 ;HP:0100490 ;HP:0100864
chr11|47428683|47438047|ENSG00000165915.9|ENSG00000165915.9|SLC39A13|SLC39A13|Confirmed DD Gene|Biallelic|Loss of function|SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD|13435|601668||HP:0000007 ;HP:0000592 ;HP:0000677 ;HP:0000707 ;HP:0000926 ;HP:0000951 ;HP:0001182 ;HP:0001238 ;HP:0002651 ;HP:0002857 ;HP:0002868 ;HP:0003015 ;HP:0003025 ;HP:0003071 ;HP:0003301 ;HP:0003508 ;HP:0006290 ;HP:0006304 ;HP:0006339 ;HP:0006429 ;HP:0009183 ;HP:0010584 ;HP:0010585 ;HP:0100864
chr11|58910221|58922512|ENSG00000166801.11|ENSG00000166801.11|FAM111A|FAM111A|Confirmed DD Gene|Monoallelic|Activating|Kenny-Caffey syndrome (KCS [MIM 127000])|13572|127000|23684011|HP:0000256 ;HP:0000519 ;HP:0000540 ;HP:0000568 ;HP:0000829 ;HP:0000935 ;HP:0001085 ;HP:0001250 ;HP:0001476 ;HP:0001903 ;HP:0002135 ;HP:0002901 ;HP:0004322 ;HP:0007862 ;HP:0008285 ;HP:0011001 ;HP:0100253
chr11|61159159|61166335|ENSG00000187049.5|ENSG00000187049.5|TMEM216|TMEM216|Probable DD gene|Biallelic|All missense/in frame|Joubert syndrome 2|10123|608091|20036350 ;20512146|HP:0000007 ;HP:0000050 ;HP:0000082 ;HP:0000090 ;HP:0000107 ;HP:0000156 ;HP:0000238 ;HP:0000256 ;HP:0000316 ;HP:0000369 ;HP:0000505 ;HP:0000556 ;HP:0000567 ;HP:0000568 ;HP:0000570 ;HP:0000588 ;HP:0000639 ;HP:0000657 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001273 ;HP:0001760 ;HP:0002084 ;HP:0002195 ;HP:0002335 ;HP:0002365 ;HP:0002404 ;HP:0002419 ;HP:0002508 ;HP:0002790 ;HP:0002871 ;HP:0002876 ;HP:0003812 ;HP:0005280 ;HP:0007772 ;HP:0011933 ;HP:0100951
chr11|61717293|61732987|ENSG00000167995.11|ENSG00000167995.11|BEST1|BEST1|Possible DD Gene|Monoallelic|Uncertain|Vitelliform macular dystrophy type 2 (VMD2) |11199|153700|9662395|HP:0000006 ;HP:0000505 ;HP:0000512 ;HP:0008028
chr11|61717293|61732987|ENSG00000167995.11|ENSG00000167995.11|BEST1|BEST1|Possible DD Gene|Monoallelic|Uncertain|Retinitis pigmentosa type 50 (RP50) |11212|613194||HP:0000006 ;HP:0000512 ;HP:0000541 ;HP:0000543 ;HP:0000662 ;HP:0007663 ;HP:0007843 ;HP:0012045
chr11|61717293|61732987|ENSG00000167995.11|ENSG00000167995.11|BEST1|BEST1|Possible DD Gene|Monoallelic|All missense/in frame|adult-onset vitelliform macular dystrophy (AVMD)|10000|608161||HP:0000006 ;HP:0000505 ;HP:0007677
chr11|61717293|61732987|ENSG00000167995.11|ENSG00000167995.11|BEST1|BEST1|Possible DD Gene|Monoallelic|Uncertain|Vitreoretinochoroidopathy autosomal dominant (ADVIRC) |11213|193220||HP:0000006 ;HP:0000482 ;HP:0000486 ;HP:0000501 ;HP:0000541 ;HP:0000551 ;HP:0000568 ;HP:0000580 ;HP:0000639 ;HP:0000662 ;HP:0007641 ;HP:0007661 ;HP:0007902 ;HP:0007985 ;HP:0008043 ;HP:0010693
chr11|61717293|61732987|ENSG00000167995.11|ENSG00000167995.11|BEST1|BEST1|Possible DD Gene|Biallelic|Loss of function|BESTROPHINOPATHY; ARB|10303|611809||HP:0000007 ;HP:0000488 ;HP:0000540 ;HP:0000654 ;HP:0007663 ;HP:0012045
chr11|64373646|64490660|ENSG00000110076.14|ENSG00000110076.14|NRXN2|NRXN2|Probable DD gene|Monoallelic|Loss of function|Autism|10712|209850||HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000728 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001426 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0011463
chr11|65482367|65488418|ENSG00000172922.4|ENSG00000172922.4|RNASEH2C|RNASEH2C|Confirmed DD Gene|Biallelic|Loss of function|Aicardi-Goutieres syndrome 3|10789|610329|16845400|HP:0000007 ;HP:0000253 ;HP:0001257 ;HP:0001332 ;HP:0001433 ;HP:0001873 ;HP:0002514 ;HP:0002910 ;HP:0003819 ;HP:0011344
chr11|65769550|65771620|ENSG00000175334.3|ENSG00000175334.3|BANF1|BANF1|Probable DD gene|Biallelic|All missense/in frame|Nestor-Guillermo progeria syndrome|10145|614008|21549337|HP:0000007 ;HP:0000272 ;HP:0000347 ;HP:0000444 ;HP:0000520 ;HP:0000535 ;HP:0000653 ;HP:0000678 ;HP:0000772 ;HP:0000905 ;HP:0000939 ;HP:0001371 ;HP:0001387 ;HP:0001476 ;HP:0001508 ;HP:0002092 ;HP:0002621 ;HP:0002650 ;HP:0002973 ;HP:0004322 ;HP:0005585 ;HP:0009839 ;HP:0010537 ;HP:0011703 ;HP:0100578
chr11|65837834|66012218|ENSG00000175115.7|ENSG00000175115.7|PACS1|PACS1|Probable DD gene|Monoallelic|Activating|intellectual disability|13489|615009|23159249; 23159249|
chr11|66278077|66301098|ENSG00000174483.15|ENSG00000174483.15|BBS1|BBS1|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 1 (BBS1)|10341|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr11|66615704|66725847|ENSG00000173599.9|ENSG00000173599.9|PC|PC|Confirmed DD Gene|Biallelic|Loss of function|pyruvate carboxylase deficiency (PC deficiency)|10493|266150|12112657 ;9585612 ;19306334 ;9585002|HP:0000007 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001943 ;HP:0002049 ;HP:0002151 ;HP:0002169 ;HP:0002240 ;HP:0003128 ;HP:0003348 ;HP:0003542 ;HP:0003577 ;HP:0006970 ;HP:0007190
chr11|67286383|67290899|ENSG00000167791.7|ENSG00000167791.7|CABP2|CABP2|Probable DD gene|Biallelic|Loss of function|DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93|13455|614899|22981119; 22981119|HP:0000007
chr11|67374323|67380006|ENSG00000167792.7|ENSG00000167792.7|NDUFV1|NDUFV1|Confirmed DD Gene|Biallelic|All missense/in frame|Mitochondrial complex I deficiency	|12733|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr11|67798084|67804111|ENSG00000110717.6|ENSG00000110717.6|NDUFS8|NDUFS8|Confirmed DD Gene|Biallelic|All missense/in frame|Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)|12732|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr11|68080077|68216743|ENSG00000162337.7|ENSG00000162337.7|LRP5|LRP5|Confirmed DD Gene|Monoallelic|Loss of function|vitreoretinopathy exudative type 4 (EVR4)|10903|601813|9831343 ;15981244 ;9056564 ;15024691|HP:0000006 ;HP:0000007 ;HP:0000523 ;HP:0000618 ;HP:0000938 ;HP:0001147 ;HP:0001489 ;HP:0001493 ;HP:0003593 ;HP:0007685 ;HP:0007811 ;HP:0007902 ;HP:0007917
chr11|68080077|68216743|ENSG00000162337.7|ENSG00000162337.7|LRP5|LRP5|Confirmed DD Gene|Biallelic|Loss of function|osteoporosis-pseudoglioma syndrome (OPPG)|10904|259770|11719191 ;20034086|HP:0000007 ;HP:0000252 ;HP:0000518 ;HP:0000568 ;HP:0000618 ;HP:0000667 ;HP:0000926 ;HP:0000939 ;HP:0001089 ;HP:0001252 ;HP:0001256 ;HP:0001382 ;HP:0001552 ;HP:0001629 ;HP:0002659 ;HP:0002751 ;HP:0002756 ;HP:0003016 ;HP:0004322 ;HP:0007773 ;HP:0008037
chr11|68080077|68216743|ENSG00000162337.7|ENSG00000162337.7|LRP5|LRP5|Confirmed DD Gene|Monoallelic|Activating|high bone mass trait (HBM)|10100|601884|11741193 ;14727154|HP:0000006 ;HP:0000925 ;HP:0004563
chr11|68080077|68216743|ENSG00000162337.7|ENSG00000162337.7|LRP5|LRP5|Confirmed DD Gene|Monoallelic|Activating|endosteal hyperostosis Worth type (WENHY)|10101|144750|12579474|HP:0000006 ;HP:0000407 ;HP:0000689 ;HP:0000935 ;HP:0001507 ;HP:0002644 ;HP:0004425 ;HP:0006174 ;HP:0008114 ;HP:0100789 ;HP:0100861 ;HP:0100923
chr11|68080077|68216743|ENSG00000162337.7|ENSG00000162337.7|LRP5|LRP5|Confirmed DD Gene|Monoallelic|Uncertain|osteopetrosis autosomal dominant type 1 (OPTA1)|11377|607634|12579474|HP:0000006 ;HP:0000405 ;HP:0000925 ;HP:0001939 ;HP:0002315 ;HP:0002644 ;HP:0002684 ;HP:0005789
chr11|68671310|68708070|ENSG00000132740.4|ENSG00000132740.4|IGHMBP2|IGHMBP2|Confirmed DD Gene|Biallelic|Loss of function|Spinal Muscular Atrophy with Respiratory Distress 1|12472|604320|11528396 ;15290238; 11528396|HP:0000007 ;HP:0000020 ;HP:0000762 ;HP:0000764 ;HP:0001064 ;HP:0001265 ;HP:0001508 ;HP:0001511 ;HP:0001518 ;HP:0001558 ;HP:0001612 ;HP:0001622 ;HP:0001762 ;HP:0002019 ;HP:0002398 ;HP:0002460 ;HP:0002789 ;HP:0003445 ;HP:0003690 ;HP:0003693 ;HP:0005348 ;HP:0005946 ;HP:0006597 ;HP:0007269 ;HP:0009109 ;HP:0009110 ;HP:0100490
chr11|69624992|69633792|ENSG00000186895.2|ENSG00000186895.2|FGF3|FGF3|Confirmed DD Gene|Biallelic|Loss of function|deafness with labyrinthine aplasia, microtia and microdontia|10982|610706|18701883 ;21480479 ;17236138 ;18435799|HP:0000007 ;HP:0000276 ;HP:0000347 ;HP:0000687 ;HP:0000691 ;HP:0000698 ;HP:0002194 ;HP:0010609 ;HP:0011266 ;HP:0011372 ;HP:0011476
chr11|70313961|70963623|ENSG00000162105.12|ENSG00000162105.12|SHANK2|SHANK2|Possible DD Gene|Monoallelic|Loss of function|susceptibility to autism type 17 (AUTS17) |10506|613436||
chr11|71139239|71163914|ENSG00000172893.11|ENSG00000172893.11|DHCR7|DHCR7|Confirmed DD Gene|Biallelic|Loss of function|Smith-Lemli-Opitz syndrome (SLOS)|10370|270400|9653161 ;20635399 ;12949967 ;16044199 ;9714007 ;11857552 ;15952211 ;9634533 ;9683613 ;11175299 ;10677299 ;12794707 ;10814720|HP:0000007 ;HP:0000028 ;HP:0000046 ;HP:0000047 ;HP:0000048 ;HP:0000054 ;HP:0000062 ;HP:0000074 ;HP:0000089 ;HP:0000104 ;HP:0000107 ;HP:0000126 ;HP:0000171 ;HP:0000175 ;HP:0000187 ;HP:0000238 ;HP:0000252 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000343 ;HP:0000347 ;HP:0000358 ;HP:0000365 ;HP:0000369 ;HP:0000403 ;HP:0000431 ;HP:0000463 ;HP:0000486 ;HP:0000508 ;HP:0000518 ;HP:0000639 ;HP:0000678 ;HP:0000717 ;HP:0000718 ;HP:0000742 ;HP:0000752 ;HP:0000813 ;HP:0000826 ;HP:0000964 ;HP:0000996 ;HP:0001153 ;HP:0001162 ;HP:0001249 ;HP:0001250 ;HP:0001276 ;HP:0001290 ;HP:0001305 ;HP:0001360 ;HP:0001508 ;HP:0001511 ;HP:0001558 ;HP:0001622 ;HP:0001623 ;HP:0001629 ;HP:0001631 ;HP:0001643 ;HP:0001680 ;HP:0001765 ;HP:0001830 ;HP:0001831 ;HP:0001840 ;HP:0001845 ;HP:0001884 ;HP:0002013 ;HP:0002019 ;HP:0002020 ;HP:0002021 ;HP:0002033 ;HP:0002079 ;HP:0002089 ;HP:0002101 ;HP:0002251 ;HP:0002566 ;HP:0002579 ;HP:0002611 ;HP:0002827 ;HP:0003146 ;HP:0004322 ;HP:0004691 ;HP:0005280 ;HP:0005753 ;HP:0006979 ;HP:0007165 ;HP:0007333 ;HP:0007537 ;HP:0009623 ;HP:0009778 ;HP:0010569 ;HP:0010655
chr11|71791382|71821828|ENSG00000184154.8|ENSG00000184154.8|LRTOMT|LRTOMT|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 63|10815|611451|18953341 ;18794526|HP:0000007 ;HP:0000365
chr11|71900602|71907345|ENSG00000110195.7|ENSG00000110195.7|FOLR1|FOLR1|Confirmed DD Gene|Biallelic|Loss of function|neurodegeneration due to cerebral folate transport deficiency|11617|613068|21937992 ;19732866; 19732866|HP:0000007 ;HP:0001249 ;HP:0001250 ;HP:0002180 ;HP:0002376
chr11|71934745|71950149|ENSG00000165458.9|ENSG00000165458.9|INPPL1|INPPL1|Confirmed DD Gene|Biallelic|Loss of function|Opsismodysplasia|13502|258480|23273569; 23273569 |HP:0000007 ;HP:0000239 ;HP:0000256 ;HP:0000316 ;HP:0000343 ;HP:0000463 ;HP:0000470 ;HP:0000774 ;HP:0000907 ;HP:0000922 ;HP:0000969 ;HP:0001252 ;HP:0001538 ;HP:0001561 ;HP:0001591 ;HP:0001773 ;HP:0002007 ;HP:0002205 ;HP:0003021 ;HP:0003026 ;HP:0003173 ;HP:0003175 ;HP:0003177 ;HP:0003180 ;HP:0003196 ;HP:0003510 ;HP:0004279 ;HP:0004565 ;HP:0005280 ;HP:0008479 ;HP:0008905
chr11|75526212|75854239|ENSG00000198382.4|ENSG00000198382.4|UVRAG|UVRAG|Possible DD Gene|Monoallelic|Uncertain|UV RADIATION RESISTANCE-ASSOCIATED GENE; UVRAG|11288|602493||
chr11|76839310|76926284|ENSG00000137474.15|ENSG00000137474.15|MYO7A|MYO7A|Both DD and IF|Biallelic|Loss of function|Usher syndrome type 1B|11506|276900|7870171|HP:0000007 ;HP:0000407 ;HP:0000510 ;HP:0000510 ;HP:0000550 ;HP:0000572 ;HP:0001270 ;HP:0001425 ;HP:0003674 ;HP:0008527 ;HP:0008555 ;HP:0008591
chr11|76839310|76926284|ENSG00000137474.15|ENSG00000137474.15|MYO7A|MYO7A|Both DD and IF|Biallelic|Loss of function|deafness autosomal recessive type 2|11507|600060|9171833|HP:0000007 ;HP:0002321 ;HP:0003577 ;HP:0003674 ;HP:0008513 ;HP:0008619
chr11|77811982|77850706|ENSG00000159063.8|ENSG00000159063.8|ALG8|ALG8|Confirmed DD Gene|Biallelic|Loss of function|ALG8-CDG (CDG-Ih)|11008|237145||
chr11|86748886|87034800|ENSG00000166575.12|ENSG00000166575.12|TMEM135|TMEM135|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10042||21937992|
chr11|88910620|89028927|ENSG00000077498.8|ENSG00000077498.8|TYR|TYR|Confirmed DD Gene|Biallelic|Loss of function|Oculocutaneous Albinism Type 1|13315|203100||HP:0000007 ;HP:0000483 ;HP:0000486 ;HP:0000505 ;HP:0000545 ;HP:0000613 ;HP:0000635 ;HP:0000639 ;HP:0001107 ;HP:0003577 ;HP:0007750 ;HP:0011364
chr11|93517393|93547861|ENSG00000042429.6|ENSG00000042429.6|MED17|MED17|Probable DD gene|Biallelic|All missense/in frame|Microcephaly, postnatal progressive, with seizures and brain atrophy|10134|613668|20950787|HP:0000007 ;HP:0000253 ;HP:0001250 ;HP:0001257 ;HP:0001347 ;HP:0001508 ;HP:0002015 ;HP:0002169 ;HP:0002521 ;HP:0003676 ;HP:0011968
chr11|95523129|95565857|ENSG00000166037.6|ENSG00000166037.6|CEP57|CEP57|Confirmed DD Gene|Biallelic|Loss of function|Mosaic variegated aneuploidy syndrome 2|10679|614114|12116237 ;21552266|HP:0000007 ;HP:0000252 ;HP:0000268 ;HP:0000276 ;HP:0000286 ;HP:0000325 ;HP:0000347 ;HP:0000365 ;HP:0000369 ;HP:0000490 ;HP:0000494 ;HP:0000581 ;HP:0000821 ;HP:0000824 ;HP:0000957 ;HP:0001256 ;HP:0001511 ;HP:0001518 ;HP:0001629 ;HP:0001631 ;HP:0001659 ;HP:0001680 ;HP:0001682 ;HP:0002007 ;HP:0002101 ;HP:0002247 ;HP:0002750 ;HP:0003196 ;HP:0003812 ;HP:0004322 ;HP:0005280 ;HP:0010535
chr11|101981192|102104154|ENSG00000137693.9|ENSG00000137693.9|YAP1|YAP1|Probable DD gene|Monoallelic|Loss of function|Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	|13709|120433|24462371|
chr11|102813724|102826463|ENSG00000137745.7|ENSG00000137745.7|MMP13|MMP13|Confirmed DD Gene|Monoallelic|All missense/in frame|spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO)|10174|602111|19615667 ;8412645|HP:0000006 ;HP:0000926 ;HP:0001377 ;HP:0002515 ;HP:0002651 ;HP:0002750 ;HP:0002758 ;HP:0002812 ;HP:0002869 ;HP:0002970 ;HP:0002980 ;HP:0002982 ;HP:0002986 ;HP:0003015 ;HP:0003021 ;HP:0003031 ;HP:0003071 ;HP:0004566 ;HP:0006603 ;HP:0008476 ;HP:0008905 ;HP:0010585
chr11|102813724|102826463|ENSG00000137745.7|ENSG00000137745.7|MMP13|MMP13|Confirmed DD Gene|Biallelic|All missense/in frame|metaphyseal anadysplasia type 1 (MANDP1)|10175|602111|19615667 ;8412645|HP:0000006 ;HP:0000926 ;HP:0001377 ;HP:0002515 ;HP:0002651 ;HP:0002750 ;HP:0002758 ;HP:0002812 ;HP:0002869 ;HP:0002970 ;HP:0002980 ;HP:0002982 ;HP:0002986 ;HP:0003015 ;HP:0003021 ;HP:0003031 ;HP:0003071 ;HP:0004566 ;HP:0006603 ;HP:0008476 ;HP:0008905 ;HP:0010585
chr11|102980160|103350591|ENSG00000187240.9|ENSG00000187240.9|DYNC2H1|DYNC2H1|Confirmed DD Gene|Biallelic|Loss of function|asphyxiating thoracic dystrophy type 3 (ATD3)|10891|613091|19442771|HP:0000007 ;HP:0000773 ;HP:0002650 ;HP:0003026 ;HP:0005257 ;HP:0010454 ;HP:0010579 ;HP:0011927
chr11|102980160|103350591|ENSG00000187240.9|ENSG00000187240.9|DYNC2H1|DYNC2H1|Confirmed DD Gene|Biallelic|Loss of function|short rib-polydactyly syndrome type 3 (SRPS3)|10892|263510|19442771 ;19361615|HP:0000007 ;HP:0000062 ;HP:0000773 ;HP:0000774 ;HP:0002007 ;HP:0003016 ;HP:0005280 ;HP:0005469 ;HP:0011220
chr11|107992243|108018503|ENSG00000075239.9|ENSG00000075239.9|ACAT1|ACAT1|Confirmed DD Gene|Biallelic|Loss of function|ALPHA-METHYLACETOACETIC ACIDURIA|11750|203750|4690360 ;11914035 ;1627655 ;1346617 ;1715688 ;7907600 ;9700610; 1979337|HP:0000007 ;HP:0001249 ;HP:0001944 ;HP:0002013 ;HP:0005974
chr11|108093211|108239829|ENSG00000149311.13|ENSG00000149311.13|ATM|ATM|Confirmed DD Gene|Biallelic|Loss of function|ATAXIA-TELANGIECTASIA; AT|10640|208900|2491181 ;9600235 ;8968760 ;9781027 ;8755918 ;11889466 ;9887333 ;22345219 ;11826028 ;7792600 ;9443866 ;9450874 ;9521587 ;8808599|HP:0000007 ;HP:0000134 ;HP:0000246 ;HP:0000486 ;HP:0000524 ;HP:0000639 ;HP:0000778 ;HP:0000819 ;HP:0000823 ;HP:0000833 ;HP:0000957 ;HP:0001250 ;HP:0001251 ;HP:0001260 ;HP:0001266 ;HP:0001315 ;HP:0001332 ;HP:0001336 ;HP:0001337 ;HP:0001595 ;HP:0001888 ;HP:0001909 ;HP:0002110 ;HP:0002665 ;HP:0002720 ;HP:0002837 ;HP:0004322 ;HP:0005357 ;HP:0005407 ;HP:0006254 ;HP:0008348 ;HP:0008669
chr11|108376158|108464465|ENSG00000110723.7|ENSG00000110723.7|EXPH5|EXPH5|Probable DD gene|Biallelic|Loss of function|Inherited Skin Fragility|13488|615028|23176819; 23176819|
chr11|111652919|111742305|ENSG00000086848.10|ENSG00000086848.10|ALG9|ALG9|Probable DD gene|Biallelic|Loss of function|ALG9-CDG (CDG-IL)|11009|300153||
chr11|111779289|111794446|ENSG00000109846.3|ENSG00000109846.3|CRYAB|CRYAB|Possible DD Gene|Biallelic|Loss of function|MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED|10232|613869|21337604|HP:0000007 ;HP:0001371 ;HP:0001612 ;HP:0002063 ;HP:0002093 ;HP:0002104 ;HP:0003236 ;HP:0003560 ;HP:0003678
chr11|111779289|111794446|ENSG00000109846.3|ENSG00000109846.3|CRYAB|CRYAB|Possible DD Gene|Monoallelic|Loss of function|Cataract posterior polar type 2 (CTPP2)|11211|613763|11577372|HP:0000006 ;HP:0000007 ;HP:0000519 ;HP:0000556
chr11|111895538|111935114|ENSG00000150768.11|ENSG00000150768.11|DLAT|DLAT|Confirmed DD Gene|Biallelic|Loss of function|Pyruvate dehydrogenase E2 deficiency|12120|245348|16049940; 16049940|HP:0000007 ;HP:0000252 ;HP:0000508 ;HP:0000639 ;HP:0000657 ;HP:0001251 ;HP:0001256 ;HP:0001266 ;HP:0001319 ;HP:0001347 ;HP:0002194 ;HP:0002268 ;HP:0002307 ;HP:0002465 ;HP:0003128 ;HP:0003593 ;HP:0006961
chr11|112097088|112140678|ENSG00000150787.3|ENSG00000150787.3|PTS|PTS|Confirmed DD Gene|Biallelic|Loss of function|6-Pyruvoyltetrahydropterin Synthase Deficiency|12926|261640|9450907 ;10220141 ;8178819|HP:0000007 ;HP:0000252 ;HP:0000737 ;HP:0001250 ;HP:0001251 ;HP:0001262 ;HP:0001263 ;HP:0001266 ;HP:0001300 ;HP:0001332 ;HP:0001337 ;HP:0001347 ;HP:0001518 ;HP:0001954 ;HP:0002015 ;HP:0002033 ;HP:0002063 ;HP:0002067 ;HP:0002344 ;HP:0004923 ;HP:0006887 ;HP:0008936
chr11|113930315|114121398|ENSG00000109906.9|ENSG00000109906.9|ZBTB16|ZBTB16|Possible DD Gene|Biallelic|Uncertain| skeletal defects genital hypoplasia and mental retardation (SGYMR) |11291|612447||HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000160 ;HP:0000213 ;HP:0000252 ;HP:0000486 ;HP:0001249 ;HP:0002750 ;HP:0003022 ;HP:0004322 ;HP:0006501 ;HP:0009777
chr11|118307205|118397539|NA|NA|MLL|MLL|Confirmed DD Gene|Monoallelic|Loss of function|Wiedemann-Steiner syndrome (WSS)|13400|605130||HP:0000156 ;HP:0000219 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000369 ;HP:0000445 ;HP:0000486 ;HP:0000494 ;HP:0000527 ;HP:0000574 ;HP:0000581 ;HP:0000664 ;HP:0000718 ;HP:0000750 ;HP:0000960 ;HP:0001182 ;HP:0001249 ;HP:0001250 ;HP:0001508 ;HP:0001831 ;HP:0002019 ;HP:0002136 ;HP:0002750 ;HP:0004209 ;HP:0004322 ;HP:0005819 ;HP:0200086
chr11|118967213|118979041|ENSG00000172269.12|ENSG00000172269.12|DPAGT1|DPAGT1|Confirmed DD Gene|Biallelic|All missense/in frame|DPAGT1-CDG (CDG-Ij)|10199|300129||
chr11|118967213|118979041|ENSG00000172269.12|ENSG00000172269.12|DPAGT1|DPAGT1|Confirmed DD Gene|Biallelic|Loss of function|MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2|13395|614750|22742743|HP:0000006 ;HP:0000007 ;HP:0001270 ;HP:0002650 ;HP:0003677 ;HP:0003701
chr11|119076752|119178859|ENSG00000110395.4|ENSG00000110395.4|CBL|CBL|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia|10089|613563|20619386 ;20694012 ;20543203|
chr11|119209652|119217383|ENSG00000235718.3|ENSG00000235718.3|MFRP|MFRP|Confirmed DD Gene|Biallelic|Loss of function|nanophthalmos 2 (NNO2)|11118|609549|1258954 ;15976030|HP:0000007 ;HP:0000568
chr11|119209652|119217383|ENSG00000235718.3|ENSG00000235718.3|MFRP|MFRP|Confirmed DD Gene|Biallelic|Loss of function|microphthalmia isolated type 5 (MCOP5)|11133|611040|17167404|HP:0000007 ;HP:0000493 ;HP:0000568 ;HP:0000591 ;HP:0001000 ;HP:0007698 ;HP:0007737 ;HP:0008323 ;HP:0011510 ;HP:0012152
chr11|119494120|119599794|ENSG00000110400.6|ENSG00000110400.6|PVRL1|PVRL1|Possible DD Gene|Biallelic|Loss of function|Cleft Lip +/- Cleft Palate|12929|225060||HP:0000007 ;HP:0000175 ;HP:0000204 ;HP:0000272 ;HP:0000288 ;HP:0000325 ;HP:0000535 ;HP:0000598 ;HP:0000653 ;HP:0000668 ;HP:0000674 ;HP:0000691 ;HP:0000972 ;HP:0002164 ;HP:0002296 ;HP:0010554 ;HP:0010621 ;HP:0010719
chr11|120971882|121062202|ENSG00000109927.5|ENSG00000109927.5|TECTA|TECTA|Confirmed DD Gene|Monoallelic|All missense/in frame|deafness autosomal dominant type 12|11539|601543|9590290|HP:0000006 ;HP:0000407
chr11|120971882|121062202|ENSG00000109927.5|ENSG00000109927.5|TECTA|TECTA|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 21	|13673|603629|9949200|HP:0000007 ;HP:0000407
chr11|121163162|121179403|ENSG00000109929.5|ENSG00000109929.5|SC5D|SC5D|Confirmed DD Gene|Biallelic|Uncertain|lathosterolosis (LATHST)|11276|607330||HP:0000007 ;HP:0000033 ;HP:0000085 ;HP:0000156 ;HP:0000212 ;HP:0000213 ;HP:0000215 ;HP:0000252 ;HP:0000286 ;HP:0000340 ;HP:0000341 ;HP:0000343 ;HP:0000347 ;HP:0000405 ;HP:0000431 ;HP:0000463 ;HP:0000494 ;HP:0000508 ;HP:0000518 ;HP:0000939 ;HP:0001162 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001406 ;HP:0001433 ;HP:0001510 ;HP:0001762 ;HP:0001770 ;HP:0001830 ;HP:0001927 ;HP:0001981 ;HP:0002059 ;HP:0002308 ;HP:0002475 ;HP:0002756 ;HP:0002904 ;HP:0002910 ;HP:0003107 ;HP:0003155 ;HP:0003196 ;HP:0003316 ;HP:0003609 ;HP:0004823 ;HP:0005608 ;HP:0007759 ;HP:0011877
chr11|124735282|124751366|ENSG00000154134.10|ENSG00000154134.10|ROBO3|ROBO3|Confirmed DD Gene|Biallelic|Loss of function|Familial Horizontal Gaze Palsy with Progressive Scoliosis|12980|607313|16525029 ;15105459;  15105459|HP:0000007 ;HP:0002944 ;HP:0007650
chr11|125753509|125770543|ENSG00000198331.6|ENSG00000198331.6|HYLS1|HYLS1|Confirmed DD Gene|Biallelic|Uncertain|hydrolethalus syndrome type 1 (HLS1)|11257|236680|15843405|HP:0000007 ;HP:0000047 ;HP:0000126 ;HP:0000136 ;HP:0000142 ;HP:0000161 ;HP:0000175 ;HP:0000347 ;HP:0000369 ;HP:0000377 ;HP:0000475 ;HP:0000568 ;HP:0001162 ;HP:0001177 ;HP:0001274 ;HP:0001305 ;HP:0001331 ;HP:0001511 ;HP:0001539 ;HP:0001561 ;HP:0001629 ;HP:0001674 ;HP:0001747 ;HP:0001762 ;HP:0002101 ;HP:0002139 ;HP:0002282 ;HP:0002536 ;HP:0002777 ;HP:0003826 ;HP:0006379 ;HP:0006882 ;HP:0008216 ;HP:0008749 ;HP:0008986 ;HP:0009752 ;HP:0009824 ;HP:0010066 ;HP:0011803
chr11|125825691|125933230|ENSG00000064309.10|ENSG00000064309.10|CDON|CDON|Confirmed DD Gene|Monoallelic|All missense/in frame|Holoprosencephaly 11|10142|614226|21802063|HP:0000006 ;HP:0000252 ;HP:0000601 ;HP:0000664 ;HP:0001263 ;HP:0001274 ;HP:0001360
chr11|126138950|126148026|ENSG00000110074.6|ENSG00000110074.6|FOXRED1|FOXRED1|Confirmed DD Gene|Biallelic|Loss of function|Mitochondrial complex I deficiency|11150|252010|20858599 ;17262856 ;19185523 ;20818383 ;16200211 ;11349233 ;21203893 ;20382551 ;15824269 ;12616398 ;10944442 ;11181577 ;9463323 ;10330338 ;22499348 ;9837812 ;15159508 ;11349233 ;10080174 ;20818383 ;23553477|HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr11|126293254|126873355|ENSG00000149571.6|ENSG00000149571.6|KIRREL3|KIRREL3|Confirmed DD Gene|Monoallelic|Uncertain|mental retardation autosomal dominant type 4 (MRD4)|11261|612581|19012874|HP:0000006 ;HP:0001249
chr11|126293254|126873355|ENSG00000149571.6|ENSG00000149571.6|KIRREL3|KIRREL3|Confirmed DD Gene|Uncertain|Uncertain|KIN OF IRRE-LIKE 3; KIRREL3|11329|607761||
chr11|130029457|130080271|ENSG00000149418.6|ENSG00000149418.6|ST14|ST14|Probable DD gene|Biallelic|All missense/in frame|ichthyosis autosomal recessive with hypotrichosis|10219|610765|18445049 ;17273967|HP:0000007 ;HP:0000164 ;HP:0000498 ;HP:0000535 ;HP:0000613 ;HP:0000951 ;HP:0001006 ;HP:0001507 ;HP:0001597 ;HP:0002212 ;HP:0002299 ;HP:0003777 ;HP:0007431 ;HP:0007665 ;HP:0007759 ;HP:0007840 ;HP:0008070
chr11|133938820|134021896|ENSG00000166086.8|ENSG00000166086.8|JAM3|JAM3|Probable DD gene|Biallelic|Loss of function|Hemorrhagic destruction of the brain, subependymal calcification, and cataracts|10732|613730|23255084 ;21109224|HP:0000007 ;HP:0000028 ;HP:0000086 ;HP:0000800 ;HP:0001250 ;HP:0001257 ;HP:0001321 ;HP:0001347 ;HP:0002119 ;HP:0002240 ;HP:0003577 ;HP:0005484
chr12|389295|498620|ENSG00000073614.7|ENSG00000073614.7|KDM5A|KDM5A|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10025||21937992|
chr12|2079952|2802108|ENSG00000151067.16|ENSG00000151067.16|CACNA1C|CACNA1C|Confirmed DD Gene|Monoallelic|Activating|Timothy syndrome	|13628|601005|15454078|HP:0001159 ;HP:0001657 ;HP:0001699
chr12|4382938|4414516|ENSG00000118971.3|ENSG00000118971.3|CCND2|CCND2|Confirmed DD Gene|Monoallelic|Activating|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|13744|603387||HP:0000006 ;HP:0000238 ;HP:0000508 ;HP:0000618 ;HP:0000637 ;HP:0001090 ;HP:0001250 ;HP:0001263 ;HP:0001302 ;HP:0001355 ;HP:0001629 ;HP:0001631 ;HP:0001653 ;HP:0002007 ;HP:0002126 ;HP:0002187 ;HP:0002319 ;HP:0002808 ;HP:0002943 ;HP:0003202 ;HP:0006380 ;HP:0007074 ;HP:0008936 ;HP:0010775 ;HP:0100259
chr12|7052141|7055166|ENSG00000111678.6|ENSG00000111678.6|C12orf57|C12orf57|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10006||21937992|
chr12|7341281|7371170|ENSG00000139197.6|ENSG00000139197.6|PEX5|PEX5|Confirmed DD Gene|Biallelic|Loss of function|adrenoleukodystrophy neonatal (NALD)|10481|202370|7719337|HP:0000007 ;HP:0000218 ;HP:0000268 ;HP:0000286 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000565 ;HP:0000846 ;HP:0001249 ;HP:0001250 ;HP:0001999 ;HP:0002007 ;HP:0003455 ;HP:0010696
chr12|7341281|7371170|ENSG00000139197.6|ENSG00000139197.6|PEX5|PEX5|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10616|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr12|7341281|7371170|ENSG00000139197.6|ENSG00000139197.6|PEX5|PEX5|Confirmed DD Gene|Biallelic|Loss of function|infantile Refsum disease (IRD)|10617|266510||HP:0000007 ;HP:0000272 ;HP:0000407 ;HP:0000457 ;HP:0000510 ;HP:0000512 ;HP:0000556 ;HP:0000939 ;HP:0000954 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001265 ;HP:0001271 ;HP:0001508 ;HP:0001892 ;HP:0001999 ;HP:0002240 ;HP:0002570 ;HP:0003146 ;HP:0003577 ;HP:0008167
chr12|7842378|7848372|ENSG00000184344.3|ENSG00000184344.3|GDF3|GDF3|Possible DD Gene|Monoallelic|Uncertain|Klippel-Feil syndrome type 3 (KFS3) |11381|613702||HP:0000006 ;HP:0002650 ;HP:0004635 ;HP:0007748
chr12|7842378|7848372|ENSG00000184344.3|ENSG00000184344.3|GDF3|GDF3|Possible DD Gene|Monoallelic|Uncertain|microphthalmia isolated with coloboma type 6 (MCOPCB6)|11388|613703||HP:0000006 ;HP:0000505 ;HP:0000589 ;HP:0000639 ;HP:0007633 ;HP:0007750 ;HP:0007766 ;HP:0009911 ;HP:0010984
chr12|7842378|7848372|ENSG00000184344.3|ENSG00000184344.3|GDF3|GDF3|Possible DD Gene|Monoallelic|All missense/in frame|microphthalmia isolated type 7 (MCOP7)|10054|613704||HP:0000568
chr12|9066492|9094063|ENSG00000111752.6|ENSG00000111752.6|PHC1|PHC1|Possible DD Gene|Biallelic|All missense/in frame|Primary microcephaly|13704|615414|23418308|
chr12|13693165|14133053|ENSG00000273079.1|ENSG00000273079.1|GRIN2B|GRIN2B|Confirmed DD Gene|Monoallelic|Loss of function|Mental retardation, autosomal dominant 6|10691|613970|23033978 ;20890276 ;23160955; 20890276|
chr12|13693165|14133053|ENSG00000273079.1|ENSG00000273079.1|GRIN2B|GRIN2B|Confirmed DD Gene|Monoallelic|Loss of function|Autism|13494||23160955|
chr12|13693165|14133053|ENSG00000273079.1|ENSG00000273079.1|GRIN2B|GRIN2B|Confirmed DD Gene|Monoallelic|All missense/in frame|Epileptic encephalopathy|13608||23934111|
chr12|14765576|14849519|ENSG00000070019.3|ENSG00000070019.3|GUCY2C|GUCY2C|Confirmed DD Gene|Monoallelic|Activating|Familial Diarrhea DIARRHEA 6; DIAR6|10109|614616|22436048; 22436048|HP:0000006 ;HP:0002027 ;HP:0100502
chr12|14765576|14849519|ENSG00000070019.3|ENSG00000070019.3|GUCY2C|GUCY2C|Confirmed DD Gene|Biallelic|Loss of function|Meconium Ileus|11193|||
chr12|15034115|15038860|ENSG00000111341.5|ENSG00000111341.5|MGP|MGP|Confirmed DD Gene|Biallelic|Loss of function|Keutel syndrome|10993|245150|15810001 ;9916809|HP:0000007 ;HP:0000272 ;HP:0000276 ;HP:0000365 ;HP:0000400 ;HP:0000403 ;HP:0001250 ;HP:0001256 ;HP:0001507 ;HP:0001611 ;HP:0001629 ;HP:0002002 ;HP:0002514 ;HP:0002837 ;HP:0004969 ;HP:0004971 ;HP:0005103 ;HP:0005268 ;HP:0005275 ;HP:0005280 ;HP:0006140 ;HP:0006662 ;HP:0008747 ;HP:0009778 ;HP:0009882 ;HP:0010109 ;HP:0010655 ;HP:0011109
chr12|15125956|15134799|ENSG00000139053.2|ENSG00000139053.2|PDE6H|PDE6H|Probable DD gene|Biallelic|Loss of function|Achromatopsia|13408|||
chr12|15125956|15134799|ENSG00000139053.2|ENSG00000139053.2|PDE6H|PDE6H|Probable DD gene|Biallelic|5 or 3UTR mutation|Retinal cone dystrophy 3		PDE6H	|13409|610024|22901948 ;15629837|HP:0000006 ;HP:0000007 ;HP:0000613 ;HP:0000639 ;HP:0000662 ;HP:0007641 ;HP:0007663 ;HP:0008020
chr12|21950335|22094336|ENSG00000069431.6|ENSG00000069431.6|ABCC9|ABCC9|Confirmed DD Gene|Monoallelic|Activating|Cantu syndrome HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA|13377|239850||HP:0000006 ;HP:0000179 ;HP:0000212 ;HP:0000215 ;HP:0000256 ;HP:0000280 ;HP:0000286 ;HP:0000343 ;HP:0000431 ;HP:0000463 ;HP:0000470 ;HP:0000527 ;HP:0000774 ;HP:0000926 ;HP:0000939 ;HP:0001004 ;HP:0001256 ;HP:0001520 ;HP:0001537 ;HP:0001640 ;HP:0001643 ;HP:0001647 ;HP:0001698 ;HP:0002673 ;HP:0002690 ;HP:0002750 ;HP:0003016 ;HP:0003300 ;HP:0004540 ;HP:0004634 ;HP:0004975 ;HP:0005129 ;HP:0005280 ;HP:0005445 ;HP:0007665 ;HP:0008822 ;HP:0010055 ;HP:0010068 ;HP:0010109 ;HP:0011220
chr12|25357723|25403870|ENSG00000133703.7|ENSG00000133703.7|KRAS|KRAS|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome type 3 (NS3)|10066|609942|16773572 ;19396835 ;16474405|HP:0000006 ;HP:0000316 ;HP:0000369 ;HP:0000463 ;HP:0000465 ;HP:0001263 ;HP:0001629 ;HP:0001642 ;HP:0002007 ;HP:0003196 ;HP:0004322 ;HP:0004442 ;HP:0011995 ;HP:0012209
chr12|25357723|25403870|ENSG00000133703.7|ENSG00000133703.7|KRAS|KRAS|Confirmed DD Gene|Monoallelic|Activating|cardiofaciocutaneous syndrome (CFC syndrome)|10082|115150||HP:0000006 ;HP:0000126 ;HP:0000156 ;HP:0000164 ;HP:0000176 ;HP:0000238 ;HP:0000268 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000365 ;HP:0000414 ;HP:0000463 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000520 ;HP:0000529 ;HP:0000545 ;HP:0000561 ;HP:0000639 ;HP:0000657 ;HP:0000767 ;HP:0000768 ;HP:0000938 ;HP:0000962 ;HP:0001003 ;HP:0001047 ;HP:0001048 ;HP:0001093 ;HP:0001187 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001276 ;HP:0001508 ;HP:0001561 ;HP:0001622 ;HP:0001631 ;HP:0001639 ;HP:0001642 ;HP:0001744 ;HP:0002002 ;HP:0002013 ;HP:0002019 ;HP:0002020 ;HP:0002120 ;HP:0002212 ;HP:0002217 ;HP:0002223 ;HP:0002750 ;HP:0003196 ;HP:0003477 ;HP:0003577 ;HP:0004209 ;HP:0004322 ;HP:0004482 ;HP:0005280 ;HP:0006114 ;HP:0007333 ;HP:0007370 ;HP:0008064 ;HP:0008070 ;HP:0008113 ;HP:0008872 ;HP:0009891 ;HP:0009908 ;HP:0011220
chr12|28111017|28125638|ENSG00000087494.11|ENSG00000087494.11|PTHLH|PTHLH|Confirmed DD Gene|Monoallelic|Loss of function|Brachydactyly, type E2|10722|613382|20170896; 20170896|HP:0000006 ;HP:0000677 ;HP:0000684 ;HP:0004322 ;HP:0010049 ;HP:0010743
chr12|28111017|28125638|ENSG00000087494.11|ENSG00000087494.11|PTHLH|PTHLH|Confirmed DD Gene|Monoallelic|Increased gene dosage|Clubbing with skeletal dysplasia inc acroosteolysis|13517|||
chr12|31226779|31257725|ENSG00000013573.12|ENSG00000013573.12|DDX11|DDX11|Confirmed DD Gene|Biallelic|Loss of function|Warsaw breakage syndrome (WBRS)|11121|613398|23033317 ;20137776|HP:0000007 ;HP:0000154 ;HP:0000156 ;HP:0000252 ;HP:0000274 ;HP:0000286 ;HP:0000340 ;HP:0000365 ;HP:0000378 ;HP:0000588 ;HP:0000954 ;HP:0000965 ;HP:0001249 ;HP:0001263 ;HP:0001511 ;HP:0001629 ;HP:0001636 ;HP:0004691 ;HP:0008586
chr12|48235320|48336831|ENSG00000111424.6|ENSG00000111424.6|VDR|VDR|Confirmed DD Gene|Biallelic|Loss of function|rickets vitamin D-dependent type 2A|10962|277440|17970811 ;3024987 ;2849209 ;8392085 ;8675579 ;9360557 ;11564167 ;2557627 ;2177843 ;2558018 ;8961271|HP:0000007 ;HP:0000670 ;HP:0000684 ;HP:0000737 ;HP:0000867 ;HP:0000886 ;HP:0000893 ;HP:0000951 ;HP:0001252 ;HP:0001270 ;HP:0001508 ;HP:0001510 ;HP:0001538 ;HP:0002007 ;HP:0002148 ;HP:0002199 ;HP:0002289 ;HP:0002355 ;HP:0002653 ;HP:0002663 ;HP:0002748 ;HP:0002752 ;HP:0002753 ;HP:0002757 ;HP:0002979 ;HP:0002980 ;HP:0002982 ;HP:0003013 ;HP:0003017 ;HP:0003020 ;HP:0003029 ;HP:0003106 ;HP:0003152 ;HP:0003155 ;HP:0003165 ;HP:0003593 ;HP:0003698 ;HP:0004492 ;HP:0005469 ;HP:0006297 ;HP:0009023 ;HP:0010502
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC|11202|183900|8325895 ;8423604 ;2543071 ;2339128|HP:0000006 ;HP:0000175 ;HP:0000272 ;HP:0000470 ;HP:0000541 ;HP:0000545 ;HP:0000655 ;HP:0000768 ;HP:0000926 ;HP:0001252 ;HP:0001552 ;HP:0001762 ;HP:0002091 ;HP:0002098 ;HP:0002318 ;HP:0002515 ;HP:0002650 ;HP:0002808 ;HP:0002812 ;HP:0002827 ;HP:0002938 ;HP:0002996 ;HP:0003071 ;HP:0003300 ;HP:0003311 ;HP:0008142 ;HP:0008788 ;HP:0008800 ;HP:0008857 ;HP:0010501
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR)|11214|184250|16088915 ;7550321 ;8486375|HP:0000006 ;HP:0000023 ;HP:0000175 ;HP:0000545 ;HP:0000768 ;HP:0000907 ;HP:0000926 ;HP:0001156 ;HP:0001538 ;HP:0001763 ;HP:0002650 ;HP:0002812 ;HP:0002857 ;HP:0003025 ;HP:0003173 ;HP:0003307 ;HP:0003311 ;HP:0003320 ;HP:0003375 ;HP:0003510 ;HP:0006406 ;HP:0008788 ;HP:0011860
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Dominant negative|Achondrogenesis type 2 (ACG2)|10237|200610|1429602 ;7829510 ;15054848 ;3195588 ;1374906 ;7757081|HP:0000006 ;HP:0000175 ;HP:0000476 ;HP:0000773 ;HP:0000888 ;HP:0000969 ;HP:0001248 ;HP:0001552 ;HP:0001561 ;HP:0001760 ;HP:0001789 ;HP:0002866 ;HP:0003026 ;HP:0003270 ;HP:0003521 ;HP:0003826 ;HP:0004605 ;HP:0005622 ;HP:0008873
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|Legg-Calve-Perthes disease (LCPD)|11215|150600||HP:0002750 ;HP:0004322 ;HP:0005743
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Dominant negative|Kniest dysplasia (KD)|10238|156550|7874117 ;7981752 ;7849719|HP:0000006 ;HP:0000023 ;HP:0000175 ;HP:0000272 ;HP:0000311 ;HP:0000403 ;HP:0000405 ;HP:0000470 ;HP:0000518 ;HP:0000520 ;HP:0000541 ;HP:0000545 ;HP:0000926 ;HP:0000947 ;HP:0001270 ;HP:0001288 ;HP:0001537 ;HP:0002098 ;HP:0002663 ;HP:0002779 ;HP:0002812 ;HP:0002827 ;HP:0002829 ;HP:0003015 ;HP:0003037 ;HP:0003273 ;HP:0003417 ;HP:0003521 ;HP:0004619 ;HP:0005280 ;HP:0006172 ;HP:0008271 ;HP:0008839 ;HP:0200003
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|Primary avascular necrosis of femoral head (ANFH)|11216|608805|21671384 ;15930420|HP:0000006 ;HP:0005743
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|osteoarthritis with mild chondrodysplasia (OACD)|11217|604864|2300123|HP:0000006 ;HP:0000926 ;HP:0001155 ;HP:0001387 ;HP:0003301 ;HP:0004322 ;HP:0004568 ;HP:0005086 ;HP:0008843
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Dominant negative|platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)|10239|151210|14729840|HP:0000006 ;HP:0000256 ;HP:0000280 ;HP:0000470 ;HP:0000773 ;HP:0000774 ;HP:0000883 ;HP:0000946 ;HP:0001538 ;HP:0003021 ;HP:0003026 ;HP:0003173 ;HP:0003175 ;HP:0003180 ;HP:0004298 ;HP:0004565 ;HP:0004591 ;HP:0005451 ;HP:0005716 ;HP:0008921 ;HP:0009826 ;HP:0200083
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)|11218|132450|9800905|HP:0000006 ;HP:0000311 ;HP:0000405 ;HP:0000518 ;HP:0000545 ;HP:0002656 ;HP:0002673 ;HP:0002857 ;HP:0004322 ;HP:0009803
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|spondyloperipheral dysplasia (SPD) [MIM:271700]|11219|271700|8723097 ;15316962|HP:0000006 ;HP:0000272 ;HP:0000339 ;HP:0000407 ;HP:0000768 ;HP:0000926 ;HP:0001169 ;HP:0001377 ;HP:0001552 ;HP:0001773 ;HP:0001831 ;HP:0002655 ;HP:0002808 ;HP:0003022 ;HP:0003180 ;HP:0003370 ;HP:0004180 ;HP:0004227 ;HP:0004322 ;HP:0005068 ;HP:0006110 ;HP:0006144 ;HP:0009290 ;HP:0009566 ;HP:0009778 ;HP:0009882 ;HP:0010049 ;HP:0010230 ;HP:0010454 ;HP:0010743 ;HP:0011304
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Dominant negative|Stickler syndrome type 1 non-syndromic ocular (STL1O)|10240|609508|17721977 ;16752401 ;15671297|HP:0000006 ;HP:0000545 ;HP:0004327 ;HP:0012230
chr12|48366748|48398269|ENSG00000139219.13|ENSG00000139219.13|COL2A1|COL2A1|Confirmed DD Gene|Monoallelic|Uncertain|rhegmatogenous retinal detachment autosomal dominant (DRRD)|11220|609508|17721977 ;16752401 ;15671297|HP:0000006 ;HP:0000545 ;HP:0004327 ;HP:0012230
chr12|49297893|49325623|ENSG00000139537.6|ENSG00000139537.6|CCDC65|CCDC65|Confirmed DD Gene|Biallelic|Loss of function|Primary Ciliary Dyskinesia|13669|||
chr12|49359123|49365546|ENSG00000169884.9|ENSG00000169884.9|WNT10B|WNT10B|Confirmed DD Gene|Biallelic|Loss of function|split-hand/foot malformation type 6 (SHFM6)|10532|225300|20635353 ;12072797|HP:0000007 ;HP:0001171 ;HP:0001180 ;HP:0001770 ;HP:0001839 ;HP:0001849 ;HP:0003829 ;HP:0006101
chr12|49372398|49375459|ENSG00000125084.7|ENSG00000125084.7|WNT1|WNT1|Confirmed DD Gene|Biallelic|Loss of function|Osteogenesis imperfecta|13523||23499309|
chr12|49412758|49453557|NA|NA|MLL2|MLL2|Confirmed DD Gene|Monoallelic|Loss of function|Kabuki syndrome (KABS)|10450|147920||HP:0000006 ;HP:0000028 ;HP:0000054 ;HP:0000074 ;HP:0000156 ;HP:0000164 ;HP:0000175 ;HP:0000252 ;HP:0000358 ;HP:0000365 ;HP:0000400 ;HP:0000403 ;HP:0000431 ;HP:0000437 ;HP:0000486 ;HP:0000508 ;HP:0000535 ;HP:0000592 ;HP:0000637 ;HP:0000851 ;HP:0000957 ;HP:0001007 ;HP:0001212 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001374 ;HP:0001382 ;HP:0001629 ;HP:0001631 ;HP:0001680 ;HP:0001878 ;HP:0001973 ;HP:0002023 ;HP:0002024 ;HP:0002025 ;HP:0002100 ;HP:0002553 ;HP:0002566 ;HP:0002650 ;HP:0003468 ;HP:0004322 ;HP:0004467 ;HP:0004736 ;HP:0005218 ;HP:0007655 ;HP:0008872 ;HP:0008897 ;HP:0009237 ;HP:0010314
chr12|49578579|49583107|ENSG00000167552.9|ENSG00000167552.9|TUBA1A|TUBA1A|Confirmed DD Gene|Monoallelic|All missense/in frame|lissencephaly type 3 (LIS3)|11283|611603|18728072 ;21403111 ;17218254 ;18954413 ;17584854|HP:0000006 ;HP:0000252 ;HP:0001250 ;HP:0001251 ;HP:0001270 ;HP:0001274 ;HP:0001302 ;HP:0001320 ;HP:0001339 ;HP:0002119 ;HP:0002126 ;HP:0002282 ;HP:0002319 ;HP:0002365 ;HP:0002510 ;HP:0010864
chr12|49578579|49583107|ENSG00000167552.9|ENSG00000167552.9|TUBA1A|TUBA1A|Confirmed DD Gene|Monoallelic|Loss of function|Intellectual disability|13624|||
chr12|50505762|50514240|ENSG00000178449.4|ENSG00000178449.4|COX14|COX14|Possible DD Gene|Biallelic|Loss of function|Mitochondrial complex IV deficiency|10715|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr12|50898768|51142450|ENSG00000066084.8|ENSG00000066084.8|DIP2B|DIP2B|Possible DD Gene|Monoallelic|Cis-regulatory or promotor mutation|Mental retardation, FRA12A type	|13422|136630|17236128|HP:0001249
chr12|51984050|52206648|ENSG00000196876.9|ENSG00000196876.9|SCN8A|SCN8A|Confirmed DD Gene|Monoallelic|Dominant negative|Epileptic encephalopathy, early infantile, 13|10268|614558|22365152; 22365152|HP:0000006 ;HP:0000717 ;HP:0001249 ;HP:0001263 ;HP:0011097
chr12|51984050|52206648|ENSG00000196876.9|ENSG00000196876.9|SCN8A|SCN8A|Confirmed DD Gene|Monoallelic|Loss of function|Cognitive impairment with or without cerebellar ataxia	|11176|614306|16236810|HP:0000006 ;HP:0000609 ;HP:0000640 ;HP:0000646 ;HP:0000712 ;HP:0001249 ;HP:0001260 ;HP:0001310
chr12|52959566|52967609|ENSG00000170484.5|ENSG00000170484.5|KRT74|KRT74|Probable DD gene|Monoallelic|All missense/in frame|Hypotrichosis simplex of the scalp 2|10130|613981|21188418|
chr12|53701240|53718648|ENSG00000094914.8|ENSG00000094914.8|AAAS|AAAS|Confirmed DD Gene|Biallelic|Loss of function|Achalasia-Addisonianism-Alacrima Syndrome|11001|231550|15173230 ;15173230 ;15173230 ;15173230 ;11159947 ;18628786 ;11701718 ;11062474|HP:0000007 ;HP:0000252 ;HP:0000522 ;HP:0000522 ;HP:0000648 ;HP:0000649 ;HP:0000953 ;HP:0000972 ;HP:0001249 ;HP:0001251 ;HP:0001260 ;HP:0001263 ;HP:0001278 ;HP:0001324 ;HP:0001347 ;HP:0002459 ;HP:0002571 ;HP:0003487 ;HP:0003676 ;HP:0004319 ;HP:0004322 ;HP:0007002 ;HP:0008220 ;HP:0008259 ;HP:0009916 ;HP:0011463
chr12|54332535|54340328|ENSG00000123364.3|ENSG00000123364.3|HOXC13|HOXC13|Confirmed DD Gene|Biallelic|Loss of function|Pure Hair and Nail Ectodermal Dysplasia|13466|614931|23315978 ;23063621; 23063621|HP:0000007 ;HP:0001006 ;HP:0001598 ;HP:0008404
chr12|56078352|56109827|ENSG00000135424.11|ENSG00000135424.11|ITGA7|ITGA7|Confirmed DD Gene|Biallelic|Loss of function|Congenital Muscular Dystrophy|12501|613204|9590299|HP:0000007 ;HP:0001249 ;HP:0001270 ;HP:0001319 ;HP:0002650 ;HP:0003198 ;HP:0003202 ;HP:0003236 ;HP:0003557 ;HP:0003593 ;HP:0008947
chr12|56473641|56497289|ENSG00000065361.10|ENSG00000065361.10|ERBB3|ERBB3|Possible DD Gene|Biallelic|Uncertain|lethal congenital contracture syndrome type 2|11397|607598||HP:0000007 ;HP:0000126 ;HP:0000347 ;HP:0000969 ;HP:0001558 ;HP:0001561 ;HP:0001629 ;HP:0001644 ;HP:0002304 ;HP:0002804 ;HP:0003202 ;HP:0004877 ;HP:0007964 ;HP:0011003
chr12|57403784|57422667|ENSG00000166863.7|ENSG00000166863.7|TAC3|TAC3|Possible DD Gene|Biallelic|All missense/in frame|Hypogonadotropic hypogonadism |10159|146110||HP:0000006 ;HP:0000044 ;HP:0000786 ;HP:0008734
chr12|64173583|64203338|ENSG00000118600.7|ENSG00000118600.7|TMEM5|TMEM5|Confirmed DD Gene|Biallelic|Loss of function|Severe Cobblestone Lissencephaly|13491|615041|23519211 ;23217329; 23217329|HP:0000007 ;HP:0000133 ;HP:0007033 ;HP:0007260 ;HP:0007973
chr12|65107225|65153227|ENSG00000135677.6|ENSG00000135677.6|GNS|GNS|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 3D (MPS3D)|10853|252940|12624138 ;19650410 ;17998446 ;3100754 ;6450420|HP:0000007 ;HP:0000154 ;HP:0000179 ;HP:0000280 ;HP:0000365 ;HP:0000369 ;HP:0000463 ;HP:0000470 ;HP:0000574 ;HP:0000664 ;HP:0000752 ;HP:0000900 ;HP:0000943 ;HP:0001007 ;HP:0001249 ;HP:0001250 ;HP:0001260 ;HP:0001371 ;HP:0001387 ;HP:0001507 ;HP:0001670 ;HP:0001744 ;HP:0002007 ;HP:0002014 ;HP:0002015 ;HP:0002159 ;HP:0002208 ;HP:0002240 ;HP:0002307 ;HP:0002360 ;HP:0002788 ;HP:0003309 ;HP:0003653 ;HP:0003676 ;HP:0005280 ;HP:0011220
chr12|65563351|65642107|ENSG00000174106.2|ENSG00000174106.2|LEMD3|LEMD3|Confirmed DD Gene|Monoallelic|Loss of function|Buschke-Ollendorff syndrome (BOS)|10905|166700|9295073 ;12749062 ;15489854 ;17223882 ;19438932|HP:0000006 ;HP:0001371 ;HP:0001387 ;HP:0001609 ;HP:0003764 ;HP:0010739
chr12|65563351|65642107|ENSG00000174106.2|ENSG00000174106.2|LEMD3|LEMD3|Confirmed DD Gene|Monoallelic|Loss of function|melorheostosis (MEL)|10906|155950||HP:0003676 ;HP:0011001
chr12|65672423|65882024|ENSG00000174099.6|ENSG00000174099.6|MSRB3|MSRB3|Probable DD gene|Biallelic|All missense/in frame|deafness autosomal recessive type 74|11500|613718|21185009|HP:0000007
chr12|76738254|76742222|ENSG00000179941.6|ENSG00000179941.6|BBS10|BBS10|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 10 (BBS10)|10339|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr12|80603233|80772870|ENSG00000165899.6|ENSG00000165899.6|OTOGL|OTOGL|Confirmed DD Gene|Biallelic|Loss of function|Moderate Sensorineural Hearing Loss |13464|614944|23122586; 23122586|HP:0000007 ;HP:0001756
chr12|80799774|81072802|ENSG00000139304.8|ENSG00000139304.8|PTPRQ|PTPRQ|Probable DD gene|Biallelic|Loss of function|Deafness, autosomal recessive 84|10720|613391|20346435|HP:0000007 ;HP:0000365 ;HP:0001270 ;HP:0001751 ;HP:0003593
chr12|85673885|85695562|ENSG00000180318.3|ENSG00000180318.3|ALX1|ALX1|Confirmed DD Gene|Biallelic|Loss of function|Frontonasal dysplasia type 3 (FND3)|10270|136760||HP:0000161 ;HP:0000286 ;HP:0000316 ;HP:0000327 ;HP:0000349 ;HP:0000369 ;HP:0000384 ;HP:0000405 ;HP:0000431 ;HP:0000431 ;HP:0000455 ;HP:0000456 ;HP:0000508 ;HP:0000518 ;HP:0000568 ;HP:0000589 ;HP:0001156 ;HP:0001162 ;HP:0001249 ;HP:0001274 ;HP:0001566 ;HP:0001636 ;HP:0002000 ;HP:0002738 ;HP:0003745 ;HP:0004423 ;HP:0005258 ;HP:0006931 ;HP:0006992 ;HP:0007541 ;HP:0009004 ;HP:0009099 ;HP:0009466 ;HP:0009473
chr12|88442793|88535993|ENSG00000198707.10|ENSG00000198707.10|CEP290|CEP290|Confirmed DD Gene|Biallelic|Loss of function|Joubert syndrome type 5 (JBTS5)|10357|610188|17564967 ;16682973 ;16682970|HP:0000007 ;HP:0000090 ;HP:0000480 ;HP:0000547 ;HP:0000639 ;HP:0000657 ;HP:0000803 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0002335 ;HP:0002404 ;HP:0002419 ;HP:0002790 ;HP:0002871 ;HP:0002876 ;HP:0003774 ;HP:0004727 ;HP:0006817 ;HP:0007875
chr12|88442793|88535993|ENSG00000198707.10|ENSG00000198707.10|CEP290|CEP290|Confirmed DD Gene|Biallelic|Loss of function|Senior-Loken syndrome type 6 (SLSN6)|10548|610189|16682973|HP:0000007 ;HP:0000505 ;HP:0000547 ;HP:0000707 ;HP:0003774
chr12|88442793|88535993|ENSG00000198707.10|ENSG00000198707.10|CEP290|CEP290|Confirmed DD Gene|Biallelic|Loss of function|Leber congenital amaurosis type 10 (LCA10)|10549|611755|17554762 ;16909394|HP:0000007 ;HP:0000505 ;HP:0001250 ;HP:0004409
chr12|88442793|88535993|ENSG00000198707.10|ENSG00000198707.10|CEP290|CEP290|Confirmed DD Gene|Biallelic|Loss of function|Meckel syndrome type 4 (MKS4)|10550|611134|17564974 ;17705300|HP:0000007 ;HP:0000107 ;HP:0001162 ;HP:0001305 ;HP:0001629 ;HP:0001631 ;HP:0002079 ;HP:0002084 ;HP:0002335
chr12|88442793|88535993|ENSG00000198707.10|ENSG00000198707.10|CEP290|CEP290|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 14 (BBS14)|10551|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr12|94071151|94288616|ENSG00000169372.8|ENSG00000169372.8|CRADD|CRADD|Possible DD Gene|Biallelic|All missense/in frame|Mental retardation, non-syndromic|13448|614499|22279524|
chr12|94702056|94853764|NA|NA|NA|CEP83|Confirmed DD Gene|Biallelic|Loss of function|Infantile Nephronophthisis and Intellectual Disability|13723||24882706|
chr12|102139275|102224716|ENSG00000111670.10|ENSG00000111670.10|GNPTAB|GNPTAB|Confirmed DD Gene|Biallelic|Loss of function|mucolipidosis type II (MLII)|10406|252500|16465621 ;16116615 ;16200072|HP:0000007 ;HP:0000023 ;HP:0000158 ;HP:0000280 ;HP:0000286 ;HP:0000341 ;HP:0000343 ;HP:0000348 ;HP:0000403 ;HP:0000463 ;HP:0000485 ;HP:0000535 ;HP:0000882 ;HP:0000938 ;HP:0001048 ;HP:0001171 ;HP:0001319 ;HP:0001498 ;HP:0001508 ;HP:0001537 ;HP:0001538 ;HP:0001540 ;HP:0001547 ;HP:0001609 ;HP:0001635 ;HP:0001639 ;HP:0001640 ;HP:0001659 ;HP:0001744 ;HP:0001762 ;HP:0002196 ;HP:0002240 ;HP:0002684 ;HP:0002690 ;HP:0002756 ;HP:0002827 ;HP:0002837 ;HP:0002869 ;HP:0003016 ;HP:0003026 ;HP:0003180 ;HP:0003264 ;HP:0003300 ;HP:0003311 ;HP:0003333 ;HP:0003414 ;HP:0003423 ;HP:0003538 ;HP:0003819 ;HP:0004562 ;HP:0005280 ;HP:0006362 ;HP:0006532 ;HP:0006610 ;HP:0007759 ;HP:0008155 ;HP:0008470 ;HP:0008850 ;HP:0009092 ;HP:0009769 ;HP:0011344 ;HP:0100540
chr12|102139275|102224716|ENSG00000111670.10|ENSG00000111670.10|GNPTAB|GNPTAB|Confirmed DD Gene|Biallelic|Loss of function|mucolipidosis type III complementation group A (MLIIIA)|10577|252600|19197337 ;16116615 ;15633164 ;16094673|HP:0000007 ;HP:0000280 ;HP:0000303 ;HP:0000484 ;HP:0000488 ;HP:0000773 ;HP:0000885 ;HP:0000943 ;HP:0001072 ;HP:0001171 ;HP:0001249 ;HP:0001328 ;HP:0001363 ;HP:0001498 ;HP:0001659 ;HP:0002650 ;HP:0002680 ;HP:0003026 ;HP:0003182 ;HP:0003264 ;HP:0003333 ;HP:0003538 ;HP:0004236 ;HP:0004322 ;HP:0006162 ;HP:0007759
chr12|102789645|102874423|ENSG00000017427.11|ENSG00000017427.11|IGF1|IGF1|Confirmed DD Gene|Biallelic|Loss of function|insulin-like growth factor I deficiency (IGF1 deficiency)|10417|608747|14684690 ;15769976 ;8857020|HP:0000007 ;HP:0000252 ;HP:0000347 ;HP:0000407 ;HP:0000508 ;HP:0000736 ;HP:0000752 ;HP:0000938 ;HP:0001249 ;HP:0001270 ;HP:0001511 ;HP:0001939 ;HP:0002750 ;HP:0003577 ;HP:0004322 ;HP:0004325 ;HP:0009466
chr12|103230663|103352188|ENSG00000171759.4|ENSG00000171759.4|PAH|PAH|Confirmed DD Gene|Biallelic|Loss of function|phenylketonuria (PKU)|10484|261600|8098245 ;1709636 ;11935335 ;9950317 ;1363838 ;8097261 ;1671810 ;3008810 ;2884570 ;2606484 ;1769645 ;1358789 ;1682235 ;8829656 ;1301947 ;1312992 ;8088845 ;8364546 ;2014802 ;1997387 ;1363837 ;1301193 ;2574002 ;1301201 ;1679030 ;2035532 ;2573272 ;2840952 ;2564729 ;1671881 ;2044609 ;1975559 ;1301200 ;1360590 ;2816939 ;2309142 ;1349576 ;2071149 ;7981714|HP:0000007 ;HP:0000252 ;HP:0000518 ;HP:0000635 ;HP:0000709 ;HP:0000718 ;HP:0000722 ;HP:0000737 ;HP:0000739 ;HP:0000742 ;HP:0000958 ;HP:0000964 ;HP:0001249 ;HP:0001250 ;HP:0001347 ;HP:0002286 ;HP:0002514 ;HP:0004920 ;HP:0004923 ;HP:0005982 ;HP:0007018 ;HP:0007513 ;HP:0100324 ;HP:0100610
chr12|103230663|103352188|ENSG00000171759.4|ENSG00000171759.4|PAH|PAH|Confirmed DD Gene|Biallelic|Loss of function|non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)|10620|261600|8098245 ;1709636 ;11935335 ;9950317 ;1363838 ;8097261 ;1671810 ;3008810 ;2884570 ;2606484 ;1769645 ;1358789 ;1682235 ;8829656 ;1301947 ;1312992 ;8088845 ;8364546 ;2014802 ;1997387 ;1363837 ;1301193 ;2574002 ;1301201 ;1679030 ;2035532 ;2573272 ;2840952 ;2564729 ;1671881 ;2044609 ;1975559 ;1301200 ;1360590 ;2816939 ;2309142 ;1349576 ;2071149 ;7981714|HP:0000007 ;HP:0000252 ;HP:0000518 ;HP:0000635 ;HP:0000709 ;HP:0000718 ;HP:0000722 ;HP:0000737 ;HP:0000739 ;HP:0000742 ;HP:0000958 ;HP:0000964 ;HP:0001249 ;HP:0001250 ;HP:0001347 ;HP:0002286 ;HP:0002514 ;HP:0004920 ;HP:0004923 ;HP:0005982 ;HP:0007018 ;HP:0007513 ;HP:0100324 ;HP:0100610
chr12|103351464|103354294|ENSG00000139352.3|ENSG00000139352.3|ASCL1|ASCL1|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10004||21937992|
chr12|106751436|106903976|ENSG00000013503.5|ENSG00000013503.5|POLR3B|POLR3B|Confirmed DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|11365||21937992|
chr12|106751436|106903976|ENSG00000013503.5|ENSG00000013503.5|POLR3B|POLR3B|Confirmed DD Gene|Biallelic|Loss of function|Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|10829|607694||HP:0000007 ;HP:0000044 ;HP:0000639 ;HP:0000648 ;HP:0000668 ;HP:0000677 ;HP:0001257 ;HP:0001260 ;HP:0001272 ;HP:0001310 ;HP:0001347 ;HP:0002015 ;HP:0002120 ;HP:0002127 ;HP:0002174 ;HP:0002307 ;HP:0002319 ;HP:0002415 ;HP:0003429 ;HP:0003487 ;HP:0003676 ;HP:0003812 ;HP:0009830
chr12|109915207|109974507|ENSG00000151148.9|ENSG00000151148.9|UBE3B|UBE3B|Confirmed DD Gene|Biallelic|Loss of function|Blepharophimosis- mental retardation|13437||23200864|
chr12|109991542|110011679|ENSG00000139428.7|ENSG00000139428.7|MMAB|MMAB|Confirmed DD Gene|Biallelic|Loss of function|methylmalonic aciduria type cblB|10957|251110|12471062|HP:0000007 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001508 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001903 ;HP:0001942 ;HP:0001944 ;HP:0001946 ;HP:0001987 ;HP:0002013 ;HP:0002098 ;HP:0002154 ;HP:0002240 ;HP:0002912 ;HP:0002919 ;HP:0003145 ;HP:0003210 ;HP:0003623 ;HP:0008872 ;HP:0012120
chr12|110220890|110271212|ENSG00000111199.6|ENSG00000111199.6|TRPV4|TRPV4|Confirmed DD Gene|Monoallelic|Activating|Spondylometaphyseal dysplasia, Kozlowski type|10095|184252|20577006 ;19232556|HP:0000006 ;HP:0000271 ;HP:0000470 ;HP:0000768 ;HP:0000926 ;HP:0001498 ;HP:0001547 ;HP:0001760 ;HP:0002515 ;HP:0002750 ;HP:0002751 ;HP:0002812 ;HP:0003015 ;HP:0003180 ;HP:0003311 ;HP:0003521 ;HP:0005042 ;HP:0006069 ;HP:0008833
chr12|110220890|110271212|ENSG00000111199.6|ENSG00000111199.6|TRPV4|TRPV4|Confirmed DD Gene|Monoallelic|All missense/in frame|Metatropic dysplasia|10187|156530|20425821 ;20577006 ;19232556 ;21964829|HP:0000006 ;HP:0000774 ;HP:0000926 ;HP:0001371 ;HP:0001558 ;HP:0002093 ;HP:0002650 ;HP:0002656 ;HP:0002766 ;HP:0002808 ;HP:0002810 ;HP:0002822 ;HP:0002825 ;HP:0002826 ;HP:0002831 ;HP:0002834 ;HP:0002879 ;HP:0003332 ;HP:0003336 ;HP:0003477 ;HP:0003510 ;HP:0003562 ;HP:0003911
chr12|110718561|110788898|ENSG00000174437.12|ENSG00000174437.12|ATP2A2|ATP2A2|Possible DD Gene|Monoallelic|Uncertain| acrokeratosis verruciformis (AKV) |11241|101900||HP:0000006 ;HP:0000962 ;HP:0001807
chr12|110718561|110788898|ENSG00000174437.12|ENSG00000174437.12|ATP2A2|ATP2A2|Possible DD Gene|Monoallelic|Loss of function|Darier disease (DD)|10545|124200||HP:0000006 ;HP:0000153 ;HP:0000975 ;HP:0000989 ;HP:0001034 ;HP:0001064 ;HP:0001250 ;HP:0001256 ;HP:0001807 ;HP:0003674 ;HP:0007302 ;HP:0008410 ;HP:0010610 ;HP:0010612 ;HP:0100753 ;HP:0200016
chr12|111051832|111087235|ENSG00000204852.11|ENSG00000204852.11|TCTN1|TCTN1|Probable DD gene|Biallelic|Loss of function|Joubert Syndrome and Related Disorders|11088|194263||
chr12|112856155|112947717|ENSG00000179295.11|ENSG00000179295.11|PTPN11|PTPN11|Confirmed DD Gene|Monoallelic|All missense/in frame|LEOPARD syndrome type 1|11521|151100||HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000122 ;HP:0000175 ;HP:0000242 ;HP:0000286 ;HP:0000303 ;HP:0000316 ;HP:0000325 ;HP:0000358 ;HP:0000369 ;HP:0000407 ;HP:0000412 ;HP:0000457 ;HP:0000465 ;HP:0000470 ;HP:0000486 ;HP:0000508 ;HP:0000767 ;HP:0000768 ;HP:0000823 ;HP:0000921 ;HP:0000957 ;HP:0001256 ;HP:0001639 ;HP:0001642 ;HP:0001682 ;HP:0001709 ;HP:0002751 ;HP:0002967 ;HP:0002996 ;HP:0003298 ;HP:0003691 ;HP:0004322 ;HP:0004409 ;HP:0008724 ;HP:0011710
chr12|112856155|112947717|ENSG00000179295.11|ENSG00000179295.11|PTPN11|PTPN11|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome 1|13591|163950|15384080 ;12161469 ;12325025 ;12529711 ;11992261 ;11704759 ;19449407 ;15240615; 11704759|HP:0000006 ;HP:0000028 ;HP:0000135 ;HP:0000156 ;HP:0000286 ;HP:0000316 ;HP:0000325 ;HP:0000347 ;HP:0000368 ;HP:0000407 ;HP:0000465 ;HP:0000470 ;HP:0000476 ;HP:0000494 ;HP:0000508 ;HP:0000545 ;HP:0000689 ;HP:0000914 ;HP:0000915 ;HP:0000917 ;HP:0001004 ;HP:0001156 ;HP:0001249 ;HP:0001425 ;HP:0001531 ;HP:0001629 ;HP:0001631 ;HP:0001639 ;HP:0001642 ;HP:0001643 ;HP:0001680 ;HP:0001892 ;HP:0002162 ;HP:0002751 ;HP:0002967 ;HP:0003251 ;HP:0004322 ;HP:0004841 ;HP:0004859 ;HP:0008357 ;HP:0008897 ;HP:0009466 ;HP:0100697 ;HP:0100769
chr12|114791736|114846247|ENSG00000089225.15|ENSG00000089225.15|TBX5|TBX5|Confirmed DD Gene|Monoallelic|Loss of function|Holt-Oram syndrome (HOS)|10519|142900||HP:0000006 ;HP:0000766 ;HP:0001191 ;HP:0001199 ;HP:0001629 ;HP:0001631 ;HP:0001643 ;HP:0002943 ;HP:0002984 ;HP:0003468 ;HP:0004383 ;HP:0009751 ;HP:0009777 ;HP:0009829 ;HP:0009944
chr12|115108059|115121969|ENSG00000135111.10|ENSG00000135111.10|TBX3|TBX3|Confirmed DD Gene|Monoallelic|Loss of function|Ulnar-Mammary Syndrome|13204|181450|9207801 ;19938096 ;12116211 ;12668170; 9207801|HP:0000006 ;HP:0000023 ;HP:0000049 ;HP:0000054 ;HP:0000668 ;HP:0000823 ;HP:0000882 ;HP:0000894 ;HP:0001162 ;HP:0001513 ;HP:0001607 ;HP:0001629 ;HP:0002021 ;HP:0002023 ;HP:0002025 ;HP:0002215 ;HP:0002557 ;HP:0002984 ;HP:0003022 ;HP:0003186 ;HP:0003187 ;HP:0003974 ;HP:0003977 ;HP:0003982 ;HP:0005338 ;HP:0005792 ;HP:0007397 ;HP:0008093 ;HP:0010627 ;HP:0011755 ;HP:0011917
chr12|116395711|116715143|ENSG00000123066.3|ENSG00000123066.3|MED13L|MED13L|Probable DD gene|Monoallelic|Loss of function|Congenital heart defects and intellectual disability|11264|608808|23403903|HP:0001669
chr12|120941077|120972237|ENSG00000110871.10|ENSG00000110871.10|COQ5|COQ5|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10014||21937992|
chr12|121163538|121177811|ENSG00000122971.4|ENSG00000122971.4|ACADS|ACADS|Both DD and IF|Biallelic|All missense/in frame|Short Chain Acyl-CoA Dehydrogenase Deficiency|11747|201470|2808706|HP:0000007 ;HP:0000544 ;HP:0000709 ;HP:0000750 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001371 ;HP:0001508 ;HP:0001638 ;HP:0002500 ;HP:0002650 ;HP:0003198 ;HP:0003219 ;HP:0003623 ;HP:0004911 ;HP:0008872 ;HP:0010628
chr12|122277433|122301502|ENSG00000158104.7|ENSG00000158104.7|HPD|HPD|Possible DD Gene|Biallelic|Loss of function|tyrosinemia type 3 |10412|276710||HP:0000007 ;HP:0001250 ;HP:0001256 ;HP:0001392 ;HP:0003161 ;HP:0003231 ;HP:0003607
chr12|122277433|122301502|ENSG00000158104.7|ENSG00000158104.7|HPD|HPD|Possible DD Gene|Biallelic|Uncertain|hawkinsinuria (HAWK) |11322|140350||HP:0000006 ;HP:0001508 ;HP:0001942 ;HP:0003161 ;HP:0003231 ;HP:0003607
chr12|122957417|122985518|ENSG00000033030.9|ENSG00000033030.9|ZCCHC8|ZCCHC8|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10047||21937992|
chr12|123717463|123742506|ENSG00000130921.3|ENSG00000130921.3|C12orf65|C12orf65|Confirmed DD Gene|Biallelic|Loss of function|Combined oxidative phosphorylation deficiency 7|10746|613559||HP:0000007 ;HP:0000505 ;HP:0000508 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0001251 ;HP:0001260 ;HP:0001263 ;HP:0001284 ;HP:0001349 ;HP:0001508 ;HP:0002151 ;HP:0002376 ;HP:0002490 ;HP:0002590 ;HP:0002936 ;HP:0003202 ;HP:0003676
chr12|124155660|124192948|ENSG00000168778.7|ENSG00000168778.7|TCTN2|TCTN2|Probable DD gene|Biallelic|Loss of function|Joubert Syndrome and Related Disorders|11089|194263||
chr13|20712394|20735188|ENSG00000121743.3|ENSG00000121743.3|GJA3|GJA3|Confirmed DD Gene|Monoallelic|Uncertain|cataract zonular pulverulent cataract type 3 (CZP3)|11205|601885|15448617 ;10205266 ;10746562 ;22550389 ;21681855 ;22876138 ;22312188|HP:0000006 ;HP:0010920
chr13|20761609|20767037|ENSG00000165474.5|ENSG00000165474.5|GJB2|GJB2|Confirmed DD Gene|Monoallelic|All missense/in frame|Bart-Pumphrey syndrome|10189|149200|15952212 ;15482471|HP:0000006 ;HP:0000365 ;HP:0001820
chr13|20761609|20767037|ENSG00000165474.5|ENSG00000165474.5|GJB2|GJB2|Confirmed DD Gene|Monoallelic|All missense/in frame|Vohwinkel syndrome|10190|124500||HP:0000006 ;HP:0000365 ;HP:0007460 ;HP:0007465 ;HP:0009775
chr13|20761609|20767037|ENSG00000165474.5|ENSG00000165474.5|GJB2|GJB2|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 1A|10984|220290|10633133 ;12121355 ;9471561 ;8789457 ;9328482 ;10218527 ;9336442 ;12239718 ;9139825 ;11556849 ;11313763 ;17660464 ;9819448 ;15253766 ;10982182|HP:0000007 ;HP:0000407 ;HP:0001751 ;HP:0010984
chr13|20761609|20767037|ENSG00000165474.5|ENSG00000165474.5|GJB2|GJB2|Confirmed DD Gene|Monoallelic|All missense/in frame|ichthyosis hystrix-like with deafness syndrome|10191|602540||HP:0000006 ;HP:0000407 ;HP:0000535 ;HP:0000561 ;HP:0000653 ;HP:0000982 ;HP:0001019 ;HP:0001761 ;HP:0002860 ;HP:0003593 ;HP:0004552 ;HP:0008064 ;HP:0011859
chr13|20761609|20767037|ENSG00000165474.5|ENSG00000165474.5|GJB2|GJB2|Confirmed DD Gene|Monoallelic|All missense/in frame|palmoplantar keratoderma with deafness|10192|148350|17993581 ;10633135 ;12372058 ;2956987|HP:0000006 ;HP:0000365 ;HP:0000972
chr13|20796110|20806534|ENSG00000121742.11|ENSG00000121742.11|GJB6|GJB6|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 1B|10986|612645|11807148|HP:0000007 ;HP:0001751
chr13|22245522|22278637|ENSG00000102678.6|ENSG00000102678.6|FGF9|FGF9|Probable DD gene|Monoallelic|Loss of function|multiple synostoses syndrome type 3|10983|612961|19589401|HP:0000006 ;HP:0001440 ;HP:0002967 ;HP:0003041 ;HP:0009701
chr13|23902965|24007841|ENSG00000151835.9|ENSG00000151835.9|SACS|SACS|Probable DD gene|Biallelic|Loss of function|SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS|13708|270550|10655055|HP:0000007 ;HP:0000012 ;HP:0000639 ;HP:0000762 ;HP:0001249 ;HP:0001257 ;HP:0001260 ;HP:0001310 ;HP:0001347 ;HP:0001761 ;HP:0001765 ;HP:0002166 ;HP:0002168 ;HP:0002460 ;HP:0002493 ;HP:0002497 ;HP:0002527 ;HP:0002936 ;HP:0003387 ;HP:0003438 ;HP:0003448 ;HP:0003487 ;HP:0003593 ;HP:0003693 ;HP:0006150 ;HP:0006855 ;HP:0007001 ;HP:0007221 ;HP:0007240 ;HP:0007654 ;HP:0007772 ;HP:0007922
chr13|25457171|25497018|ENSG00000151849.10|ENSG00000151849.10|CENPJ|CENPJ|Confirmed DD Gene|Biallelic|Loss of function|microcephaly primary type 6 (MCPH6)|10358|608393|15793586 ;20978018 ;16900296 ;12843329|HP:0000007 ;HP:0000252 ;HP:0001425 ;HP:0002342 ;HP:0002472
chr13|25457171|25497018|ENSG00000151849.10|ENSG00000151849.10|CENPJ|CENPJ|Confirmed DD Gene|Biallelic|Loss of function|Seckel syndrome type 4|10552|613676|20522431|HP:0000007 ;HP:0000252 ;HP:0000278 ;HP:0000348 ;HP:0000369 ;HP:0000430 ;HP:0001511 ;HP:0004322 ;HP:0004325 ;HP:0010455 ;HP:0100543
chr13|28194903|28241548|ENSG00000186184.11|ENSG00000186184.11|POLR1D|POLR1D|Confirmed DD Gene|Monoallelic|Loss of function|Treacher Collins syndrome type 2 (TCS2)|11113|613717|21131976|HP:0000006 ;HP:0000175 ;HP:0000347 ;HP:0000452 ;HP:0000453 ;HP:0000494
chr13|29233241|29253062|ENSG00000132963.7|ENSG00000132963.7|POMP|POMP|Possible DD Gene|Biallelic|Cis-regulatory or promotor mutation|Keratosis linearis with ichthyosis congenita and sclerosing keratoderma |11443|601952||HP:0000007 ;HP:0001036 ;HP:0001795 ;HP:0001795 ;HP:0007465 ;HP:0007479 ;HP:0007490 ;HP:0008064 ;HP:0008404 ;HP:0009775
chr13|32605437|32870794|ENSG00000073910.15|ENSG00000073910.15|FRY|FRY|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10020||21937992|
chr13|32889611|32973805|ENSG00000139618.10|ENSG00000139618.10|BRCA2|BRCA2|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia complementation group D type 1 (FANCD1)|10669|605724||HP:0000252 ;HP:0000957 ;HP:0001508 ;HP:0001511 ;HP:0002023 ;HP:0003221 ;HP:0004808 ;HP:0006727 ;HP:0009778
chr13|39261266|39460074|ENSG00000150893.9|ENSG00000150893.9|FREM2|FREM2|Confirmed DD Gene|Biallelic|Loss of function|Fraser syndrome (FRASS)|10394|219000||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000057 ;HP:0000089 ;HP:0000148 ;HP:0000175 ;HP:0000183 ;HP:0000204 ;HP:0000238 ;HP:0000252 ;HP:0000316 ;HP:0000369 ;HP:0000377 ;HP:0000378 ;HP:0000405 ;HP:0000413 ;HP:0000431 ;HP:0000445 ;HP:0000452 ;HP:0000528 ;HP:0000561 ;HP:0000618 ;HP:0000636 ;HP:0000678 ;HP:0000689 ;HP:0000777 ;HP:0000813 ;HP:0001126 ;HP:0001249 ;HP:0001362 ;HP:0001551 ;HP:0001602 ;HP:0001607 ;HP:0001627 ;HP:0002006 ;HP:0002084 ;HP:0002089 ;HP:0002223 ;HP:0002244 ;HP:0002475 ;HP:0002536 ;HP:0003183 ;HP:0004112 ;HP:0004378 ;HP:0004497 ;HP:0005280 ;HP:0005280 ;HP:0005286 ;HP:0005325 ;HP:0005352 ;HP:0005950 ;HP:0006610 ;HP:0006714 ;HP:0007633 ;HP:0007925 ;HP:0007925 ;HP:0007957 ;HP:0007993 ;HP:0008559 ;HP:0008609 ;HP:0008678 ;HP:0009601 ;HP:0009767 ;HP:0010554
chr13|41363548|41384247|ENSG00000102743.10|ENSG00000102743.10|SLC25A15|SLC25A15|Confirmed DD Gene|Biallelic|Loss of function|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)|10469|238970|16940241 ;10369256 ;11355015 ;11552031 ;19242930|HP:0000007 ;HP:0000533 ;HP:0000762 ;HP:0001249 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001328 ;HP:0001347 ;HP:0001410 ;HP:0001508 ;HP:0001987 ;HP:0002038 ;HP:0002062 ;HP:0002120 ;HP:0002123 ;HP:0002169 ;HP:0002240 ;HP:0002313 ;HP:0002370 ;HP:0002495 ;HP:0002572 ;HP:0003812 ;HP:0006846 ;HP:0007894 ;HP:0012026
chr13|51483814|51544592|ENSG00000136104.14|ENSG00000136104.14|RNASEH2B|RNASEH2B|Confirmed DD Gene|Biallelic|Loss of function|Aicardi-Goutieres syndrome 2|10788|610181|16845400|HP:0000007 ;HP:0001298 ;HP:0002059 ;HP:0002135 ;HP:0009704
chr13|52586534|52603800|ENSG00000253710.1|ENSG00000253710.1|ALG11|ALG11|Probable DD gene|Biallelic|Loss of function|ALG11-CDG (CDG-Ip)|11004|319490||
chr13|77564795|77576652|ENSG00000102805.9|ENSG00000102805.9|CLN5|CLN5|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 5 (CLN5)|10840|256731|18684116 ;15728307 ;9662406 ;20157158|HP:0000007 ;HP:0000529 ;HP:0000546 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001311 ;HP:0001336 ;HP:0002074 ;HP:0002312 ;HP:0002333 ;HP:0002376 ;HP:0003205 ;HP:0003208 ;HP:0003226
chr13|78469616|78493903|ENSG00000136160.10|ENSG00000136160.10|EDNRB|EDNRB|Confirmed DD Gene|Monoallelic|Loss of function|ABCD syndrome|10978|600501|7778600|HP:0000007 ;HP:0001022 ;HP:0001520 ;HP:0002251 ;HP:0006958 ;HP:0007894 ;HP:0008513 ;HP:0008619
chr13|92000074|92006833|ENSG00000215417.6|ENSG00000215417.6|MIR17HG|MIR17HG|Probable DD gene|Monoallelic|Loss of function|Feingold syndrome|13597|614326|21892160|HP:0000006 ;HP:0000252 ;HP:0001249 ;HP:0004322 ;HP:0005819 ;HP:0009778
chr13|93879095|95059655|ENSG00000183098.6|ENSG00000183098.6|GPC6|GPC6|Probable DD gene|Biallelic|Loss of function|omodysplasia type 1 (OMOD1) [|10898|258315|19481194|HP:0000007 ;HP:0000028 ;HP:0000272 ;HP:0000286 ;HP:0000343 ;HP:0000347 ;HP:0000431 ;HP:0000470 ;HP:0000581 ;HP:0001028 ;HP:0001060 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0002007 ;HP:0003038 ;HP:0003196 ;HP:0004415 ;HP:0005025 ;HP:0005050 ;HP:0005060 ;HP:0005085 ;HP:0005280 ;HP:0005736 ;HP:0005792 ;HP:0006376 ;HP:0006389 ;HP:0008800 ;HP:0008873 ;HP:0008905 ;HP:0009756 ;HP:0200082
chr13|100634026|100639018|ENSG00000043355.6|ENSG00000043355.6|ZIC2|ZIC2|Confirmed DD Gene|Monoallelic|Loss of function|Holoprosencephaly|11103|609637|9771712 ;11479728 ;21638761|HP:0000006 ;HP:0000156 ;HP:0000202 ;HP:0000238 ;HP:0000243 ;HP:0000252 ;HP:0000316 ;HP:0000341 ;HP:0000400 ;HP:0000582 ;HP:0000601 ;HP:0000664 ;HP:0001249 ;HP:0001263 ;HP:0001360 ;HP:0001999 ;HP:0005280
chr13|100741269|101182686|ENSG00000175198.10|ENSG00000175198.10|PCCA|PCCA|Confirmed DD Gene|Biallelic|Loss of function|Propionic acidemia	|13574|606054|9887338 ;9385377 ;10101253 ;17966092 ;8295402 ;8225321 ;10820128 ;17966092 ;9683601 ;8411997 ;12189489|HP:0000007 ;HP:0000939 ;HP:0000964 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001332 ;HP:0001508 ;HP:0001638 ;HP:0001733 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001903 ;HP:0001942 ;HP:0001943 ;HP:0001944 ;HP:0001987 ;HP:0002013 ;HP:0002019 ;HP:0002059 ;HP:0002104 ;HP:0002154 ;HP:0002240 ;HP:0002509 ;HP:0002789 ;HP:0003108 ;HP:0003128 ;HP:0003353 ;HP:0004322 ;HP:0004396 ;HP:0006846 ;HP:0008872 ;HP:0008936 ;HP:0011695
chr13|101706130|102068843|ENSG00000102452.11|ENSG00000102452.11|NALCN|NALCN|Confirmed DD Gene|Biallelic|Loss of function|infantile neuroaxonal dystrophy with facial dysmorphism|13665||23749988|
chr13|101706130|102068843|ENSG00000102452.11|ENSG00000102452.11|NALCN|NALCN|Confirmed DD Gene|Biallelic|Loss of function|Severe Hypotonia, Speech Impairment, and Cognitive Delay|13666||24075186|
chr13|103497194|103528345|ENSG00000134899.13|ENSG00000134899.13|ERCC5|ERCC5|Confirmed DD Gene|Biallelic|Loss of function|xeroderma pigmentosum complementation group G (XP-G)|10380|278780|11219864 ;12060391 ;8818951 ;11841555 ;7951246 ;9096355 ;23255472 ;11228268|HP:0000007 ;HP:0003079
chr13|108859787|108870716|ENSG00000174405.9|ENSG00000174405.9|LIG4|LIG4|Confirmed DD Gene|Biallelic|Loss of function|LIG4 syndrome|11162|606593|11779494|
chr13|108859787|108870716|ENSG00000174405.9|ENSG00000174405.9|LIG4|LIG4|Confirmed DD Gene|Biallelic|Loss of function|severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation|11163|602450|16357942|HP:0000007 ;HP:0000155 ;HP:0000388 ;HP:0001508 ;HP:0002014 ;HP:0002090 ;HP:0002732 ;HP:0002788 ;HP:0003139 ;HP:0003249 ;HP:0004430 ;HP:0005359
chr13|110801318|110959496|ENSG00000187498.10|ENSG00000187498.10|COL4A1|COL4A1|Both DD and IF|Monoallelic|Dominant negative|Porencephaly 1|10251|175780||HP:0000006 ;HP:0000238 ;HP:0000577 ;HP:0001123 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0002132 ;HP:0002140 ;HP:0002273 ;HP:0002301 ;HP:0002352 ;HP:0002451 ;HP:0003487 ;HP:0003828
chr13|110958159|111165374|ENSG00000134871.13|ENSG00000134871.13|COL4A2|COL4A2|Both DD and IF|Monoallelic|Dominant negative|Porencephaly 2|10250|614483||HP:0000006 ;HP:0001250 ;HP:0001257 ;HP:0001263 ;HP:0002119 ;HP:0002132 ;HP:0002170 ;HP:0002301 ;HP:0003828 ;HP:0003829
chr14|21756098|21819460|ENSG00000092200.8|ENSG00000092200.8|RPGRIP1|RPGRIP1|Confirmed DD Gene|Biallelic|Loss of function|Leber congenital amaurosis 6	|13423|613826|11283794 ;11528500; 11283794|
chr14|21756098|21819460|ENSG00000092200.8|ENSG00000092200.8|RPGRIP1|RPGRIP1|Confirmed DD Gene|Biallelic|All missense/in frame|Cone-rod dystrophy 13	|13424|608194|12920076; 12920076|HP:0000007 ;HP:0000551 ;HP:0000608 ;HP:0000613 ;HP:0007663 ;HP:0007688
chr14|21853353|21924285|ENSG00000100888.8|ENSG00000100888.8|CHD8|CHD8|Probable DD gene|Monoallelic|Loss of function|Autism|13492|209850|23160955|HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000728 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001426 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0011463
chr14|23305766|23318236|ENSG00000157227.8|ENSG00000157227.8|MMP14|MMP14|Possible DD Gene|Biallelic|All missense/in frame|Winchester syndrome|13415||22922033|
chr14|23851199|23877486|ENSG00000197616.7|ENSG00000197616.7|MYH6|MYH6|Both DD and IF|Monoallelic|Uncertain|atrial septal defect type 3 (ASD3)|11267|160710||
chr14|23851199|23877486|ENSG00000197616.7|ENSG00000197616.7|MYH6|MYH6|Both DD and IF|Monoallelic|Uncertain|cardiomyopathy familial hypertrophic type 14 (CMH14)|11340|613251||HP:0001639
chr14|23851199|23877486|ENSG00000197616.7|ENSG00000197616.7|MYH6|MYH6|Both DD and IF|Monoallelic|Uncertain|cardiomyopathy dilated type 1EE (CMD1EE)|11341|613252||HP:0001644
chr14|29235050|29238870|ENSG00000176165.7|ENSG00000176165.7|FOXG1|FOXG1|Confirmed DD Gene|Monoallelic|Loss of function|congenital variant of Rett syndrome (RTTCV)|10391|613454|18571142 ;21441262 ;19578037 ;19564653|HP:0000253 ;HP:0000817 ;HP:0001250 ;HP:0001257 ;HP:0001270 ;HP:0001302 ;HP:0001319 ;HP:0001332 ;HP:0001762 ;HP:0001763 ;HP:0002019 ;HP:0002020 ;HP:0002072 ;HP:0002079 ;HP:0002186 ;HP:0002305 ;HP:0002307 ;HP:0002650 ;HP:0002808 ;HP:0003763 ;HP:0010864 ;HP:0100660 ;HP:0100703
chr14|31959162|32330430|ENSG00000151413.12|ENSG00000151413.12|NUBPL|NUBPL|Confirmed DD Gene|Biallelic|Loss of function|Mitochondrial complex I deficiency|10693|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr14|35179593|35184029|ENSG00000165410.10|ENSG00000165410.10|CFL2|CFL2|Probable DD gene|Biallelic|All missense/in frame|Nemaline myopathy 7|10150|610687|17160903|HP:0000007 ;HP:0001252 ;HP:0001324 ;HP:0002194 ;HP:0003789 ;HP:0003798
chr14|36985602|36990354|ENSG00000136352.13|ENSG00000136352.13|NKX2-1|NKX2-1|Confirmed DD Gene|Monoallelic|Loss of function|Benign Hereditary Chorea|12756|118700||HP:0000006 ;HP:0000739 ;HP:0001260 ;HP:0001270 ;HP:0001288 ;HP:0002072 ;HP:0003621 ;HP:0003812
chr14|36985602|36990354|ENSG00000136352.13|ENSG00000136352.13|NKX2-1|NKX2-1|Confirmed DD Gene|Monoallelic|Loss of function|Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress|12757|610978|15289765|HP:0000006 ;HP:0000851 ;HP:0001251 ;HP:0001252 ;HP:0001260 ;HP:0001266 ;HP:0001270 ;HP:0002205 ;HP:0002355 ;HP:0002643 ;HP:0002925 ;HP:0003577 ;HP:0008223
chr14|37126773|37148920|ENSG00000198807.8|ENSG00000198807.8|PAX9|PAX9|Confirmed DD Gene|Monoallelic|Loss of function|Tooth Agenesis, Selective, 3|11061|318869||
chr14|39501123|39578850|ENSG00000100934.10|ENSG00000100934.10|SEC23A|SEC23A|Possible DD Gene|Biallelic|All missense/in frame|Craniolenticulosutural dysplasia |10154|607812||HP:0000007 ;HP:0000028 ;HP:0000154 ;HP:0000219 ;HP:0000260 ;HP:0000272 ;HP:0000316 ;HP:0000319 ;HP:0000336 ;HP:0000343 ;HP:0000431 ;HP:0000670 ;HP:0000684 ;HP:0000685 ;HP:0001388 ;HP:0001476 ;HP:0001763 ;HP:0002007 ;HP:0002208 ;HP:0002299 ;HP:0002650 ;HP:0002868 ;HP:0004322 ;HP:0005306 ;HP:0005336 ;HP:0007648 ;HP:0008070 ;HP:0008444 ;HP:0008808 ;HP:0010695 ;HP:0200086
chr14|45605143|45670093|ENSG00000187790.6|ENSG00000187790.6|FANCM|FANCM|Probable DD gene|Biallelic|Loss of function|FANCM-Related Fanconi Anemia|11037|287713||
chr14|45605143|45670093|ENSG00000187790.6|ENSG00000187790.6|FANCM|FANCM|Probable DD gene|Biallelic|Loss of function|Fanconi Anemia|11038|229154||
chr14|50087489|50090198|ENSG00000168282.4|ENSG00000168282.4|MGAT2|MGAT2|Confirmed DD Gene|Biallelic|Loss of function|congenital disorder of glycosylation type 2A (CDG2A)|10445|212066|20684000 ;11228641 ;8808595|HP:0000007 ;HP:0000154 ;HP:0000194 ;HP:0000212 ;HP:0000213 ;HP:0000232 ;HP:0000248 ;HP:0000252 ;HP:0000256 ;HP:0000278 ;HP:0000358 ;HP:0000401 ;HP:0000407 ;HP:0000426 ;HP:0000470 ;HP:0000494 ;HP:0000527 ;HP:0000574 ;HP:0000699 ;HP:0000718 ;HP:0000733 ;HP:0000742 ;HP:0000767 ;HP:0000938 ;HP:0001007 ;HP:0001250 ;HP:0001290 ;HP:0001508 ;HP:0001547 ;HP:0001572 ;HP:0001629 ;HP:0001763 ;HP:0001929 ;HP:0001976 ;HP:0002317 ;HP:0002673 ;HP:0003100 ;HP:0003423 ;HP:0004322 ;HP:0004841 ;HP:0006887 ;HP:0007466 ;HP:0008070 ;HP:0008897 ;HP:0009623 ;HP:0009765 ;HP:0010808 ;HP:0010864 ;HP:0011858 ;HP:0012301
chr14|50704281|50779266|ENSG00000087299.7|ENSG00000087299.7|L2HGDH|L2HGDH|Confirmed DD Gene|Biallelic|Loss of function|L-2-hydroxyglutaric aciduria (L2HGA)|10431|236792|15385440 ;19911013|HP:0000007 ;HP:0000365 ;HP:0000486 ;HP:0000639 ;HP:0000648 ;HP:0001250 ;HP:0001272 ;HP:0001285 ;HP:0001939 ;HP:0002062 ;HP:0002071 ;HP:0002171 ;HP:0002283 ;HP:0002352 ;HP:0002357 ;HP:0002376 ;HP:0003593 ;HP:0006887 ;HP:0007258 ;HP:0007371 ;HP:0010864
chr14|51324609|51411454|ENSG00000100504.12|ENSG00000100504.12|PYGL|PYGL|Confirmed DD Gene|Biallelic|Loss of function|Glycogen Storage Disease Type VI|12930|232700|9529348 ;9536091|HP:0000007 ;HP:0001943 ;HP:0002240 ;HP:0006568 ;HP:0008897
chr14|53510686|53620000|ENSG00000100523.10|ENSG00000100523.10|DDHD1|DDHD1|Confirmed DD Gene|Biallelic|Loss of function|Hereditary Spastic Paraplegia|13482|609340|15786464 ;23176821; 23176821|HP:0000007 ;HP:0001258 ;HP:0001347 ;HP:0001761 ;HP:0002061 ;HP:0002355 ;HP:0002650 ;HP:0002936 ;HP:0003477 ;HP:0003487 ;HP:0003621 ;HP:0003677 ;HP:0007340
chr14|54416454|54425479|ENSG00000125378.11|ENSG00000125378.11|BMP4|BMP4|Confirmed DD Gene|Monoallelic|Loss of function|MICROPHTHALMIA, SYNDROMIC 6; MCOPS6|11108|607932|18252212 ;21340693; 18252212|HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000048 ;HP:0000054 ;HP:0000089 ;HP:0000134 ;HP:0000156 ;HP:0000171 ;HP:0000175 ;HP:0000193 ;HP:0000248 ;HP:0000252 ;HP:0000272 ;HP:0000278 ;HP:0000324 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000365 ;HP:0000369 ;HP:0000400 ;HP:0000412 ;HP:0000482 ;HP:0000528 ;HP:0000545 ;HP:0000556 ;HP:0000568 ;HP:0000589 ;HP:0000618 ;HP:0000639 ;HP:0000647 ;HP:0000821 ;HP:0000830 ;HP:0000835 ;HP:0000954 ;HP:0001144 ;HP:0001177 ;HP:0001252 ;HP:0001263 ;HP:0001321 ;HP:0001344 ;HP:0001357 ;HP:0001508 ;HP:0001770 ;HP:0002119 ;HP:0002120 ;HP:0002188 ;HP:0003319 ;HP:0004209 ;HP:0004443 ;HP:0005819 ;HP:0006101 ;HP:0006829 ;HP:0007068 ;HP:0007370 ;HP:0009600 ;HP:0009909 ;HP:0010538 ;HP:0010999
chr14|54416454|54425479|ENSG00000125378.11|ENSG00000125378.11|BMP4|BMP4|Confirmed DD Gene|Monoallelic|Loss of function|OROFACIAL CLEFT 11; OFC11|11128|600625|19249007; 19249007|HP:0000202 ;HP:0001472
chr14|55308726|55369570|ENSG00000131979.14|ENSG00000131979.14|GCH1|GCH1|Confirmed DD Gene|Biallelic|Uncertain|GTP cyclohydrolase 1 deficiency (GCH1D)|11252|233910|9667588 ;10987649 ;7730309 ;12552057|HP:0000007 ;HP:0000496 ;HP:0000737 ;HP:0001250 ;HP:0001254 ;HP:0001263 ;HP:0001266 ;HP:0001332 ;HP:0001337 ;HP:0001954 ;HP:0002015 ;HP:0002063 ;HP:0002344 ;HP:0002487 ;HP:0002509 ;HP:0003593 ;HP:0003828 ;HP:0004923 ;HP:0006829 ;HP:0006887
chr14|55308726|55369570|ENSG00000131979.14|ENSG00000131979.14|GCH1|GCH1|Confirmed DD Gene|Monoallelic|Uncertain|dystonia type 5 (DYT5)|11314|128230|10208576 ;9667588 ;11359069 ;7874165 ;11486899 ;17111153 ;9576537 ;10732814|HP:0000006 ;HP:0000007 ;HP:0000473 ;HP:0001300 ;HP:0001347 ;HP:0001761 ;HP:0001762 ;HP:0002066 ;HP:0002174 ;HP:0002356 ;HP:0002548 ;HP:0002650 ;HP:0003487 ;HP:0003812 ;HP:0008297 ;HP:0011463
chr14|57267425|57277197|ENSG00000165588.12|ENSG00000165588.12|OTX2|OTX2|Confirmed DD Gene|Monoallelic|Loss of function|microphthalmia syndromic type 5 (MCOPS5)|11115|610125|20396904 ;18628516 ;19965921 ;19956411 ;15846561 ;18854396|HP:0000006 ;HP:0000028 ;HP:0000054 ;HP:0000175 ;HP:0000482 ;HP:0000518 ;HP:0000556 ;HP:0000589 ;HP:0001250 ;HP:0001263 ;HP:0001388 ;HP:0004322 ;HP:0011755
chr14|60975669|60979568|ENSG00000184302.6|ENSG00000184302.6|SIX6|SIX6|Possible DD Gene|Monoallelic|Uncertain|MICROPHTHALMIA, ISOLATED, WITH CATARACT 2|11208|212550||HP:0000007 ;HP:0000518 ;HP:0000568 ;HP:0000616 ;HP:0000639
chr14|61110133|61124977|ENSG00000126778.7|ENSG00000126778.7|SIX1|SIX1|Confirmed DD Gene|Monoallelic|All missense/in frame|deafness autosomal dominant type 23 (DFNA23)|10179|605192|10777717|HP:0000006 ;HP:0000405 ;HP:0000407
chr14|61110133|61124977|ENSG00000126778.7|ENSG00000126778.7|SIX1|SIX1|Confirmed DD Gene|Monoallelic|All missense/in frame|branchiootic syndrome type 3 (BOS3)|10180|608389|12843324 ;15141091 ;17637804|HP:0000006 ;HP:0000407 ;HP:0002710 ;HP:0004467
chr14|63173287|63568755|ENSG00000140015.15|ENSG00000140015.15|KCNH5|KCNH5|Possible DD Gene|Monoallelic|All missense/in frame|Infantile epileptic encephalopathy|13702||23647072|
chr14|68194091|68283307|ENSG00000072121.11|ENSG00000072121.11|ZFYVE26|ZFYVE26|Confirmed DD Gene|Biallelic|Loss of function|spastic paraplegia autosomal recessive type 15 (SPG15)|10535|270700|18098276 ;17661097 ;19805727 ;11342696|HP:0000007 ;HP:0000012 ;HP:0000020 ;HP:0000505 ;HP:0000546 ;HP:0000608 ;HP:0000639 ;HP:0000709 ;HP:0000720 ;HP:0001249 ;HP:0001251 ;HP:0001258 ;HP:0001260 ;HP:0001347 ;HP:0001761 ;HP:0002061 ;HP:0002064 ;HP:0002169 ;HP:0002319 ;HP:0002607 ;HP:0002839 ;HP:0003477 ;HP:0003487 ;HP:0003676 ;HP:0003693 ;HP:0003812 ;HP:0007340
chr14|70320848|70499083|ENSG00000198732.6|ENSG00000198732.6|SMOC1|SMOC1|Confirmed DD Gene|Biallelic|Loss of function|ophthalmoacromelic syndrome (OAS)|11125|206920|19208380 ;21194678|HP:0000007 ;HP:0000156 ;HP:0000175 ;HP:0000204 ;HP:0000278 ;HP:0000358 ;HP:0000369 ;HP:0000454 ;HP:0000494 ;HP:0000528 ;HP:0000568 ;HP:0000581 ;HP:0000954 ;HP:0001162 ;HP:0001180 ;HP:0001215 ;HP:0001249 ;HP:0001595 ;HP:0001626 ;HP:0001762 ;HP:0001770 ;HP:0001830 ;HP:0001849 ;HP:0001852 ;HP:0002002 ;HP:0002007 ;HP:0002827 ;HP:0002982 ;HP:0003038 ;HP:0003196 ;HP:0005280 ;HP:0005867 ;HP:0008897 ;HP:0011220
chr14|74706175|74729441|ENSG00000119614.2|ENSG00000119614.2|VSX2|VSX2|Confirmed DD Gene|Biallelic|Loss of function|microphthalmia isolated type 2|11127|610093||HP:0000007 ;HP:0000568
chr14|74706175|74729441|ENSG00000119614.2|ENSG00000119614.2|VSX2|VSX2|Confirmed DD Gene|Biallelic|Uncertain|microphthalmia with cataracts and iris abnormalities (MCOPCTI)|11392|610092||HP:0000007 ;HP:0000518 ;HP:0000568 ;HP:0000589
chr14|74706175|74729441|ENSG00000119614.2|ENSG00000119614.2|VSX2|VSX2|Confirmed DD Gene|Biallelic|Loss of function|microphthalmia isolated with coloboma type 3|11143|610092||HP:0000007 ;HP:0000518 ;HP:0000568 ;HP:0000589
chr14|74752126|74769759|ENSG00000119688.16|ENSG00000119688.16|ABCD4|ABCD4|Probable DD gene|Biallelic|Loss of function|METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ|13463|614857|22922874; 22922874|HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000316 ;HP:0000347 ;HP:0001254 ;HP:0001263 ;HP:0001510 ;HP:0001631 ;HP:0001680 ;HP:0001873 ;HP:0001875 ;HP:0001903 ;HP:0002020 ;HP:0002059 ;HP:0002092 ;HP:0002156 ;HP:0002160 ;HP:0002533 ;HP:0002789 ;HP:0002912 ;HP:0003145 ;HP:0003223 ;HP:0003524 ;HP:0003577 ;HP:0006610 ;HP:0011968 ;HP:0012120
chr14|74942895|74960880|ENSG00000119655.4|ENSG00000119655.4|NPC2|NPC2|Confirmed DD Gene|Biallelic|Loss of function|Niemann-pick disease, type C2	|13578|607625|12447927 ;11567215 ;11125141 ;17470133|HP:0000007 ;HP:0000511 ;HP:0000709 ;HP:0000726 ;HP:0000733 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001744 ;HP:0001791 ;HP:0001982 ;HP:0002015 ;HP:0002093 ;HP:0002185 ;HP:0002240 ;HP:0002371 ;HP:0002524 ;HP:0003349 ;HP:0003464 ;HP:0003640 ;HP:0003674 ;HP:0004333 ;HP:0006579
chr14|74964873|75079306|ENSG00000119681.7|ENSG00000119681.7|LTBP2|LTBP2|Confirmed DD Gene|Biallelic|Loss of function|primary congenital glaucoma type 3D|10282|613086|19361779 ;19656777|HP:0000007 ;HP:0000613 ;HP:0001083 ;HP:0007957 ;HP:0008007
chr14|74964873|75079306|ENSG00000119681.7|ENSG00000119681.7|LTBP2|LTBP2|Confirmed DD Gene|Biallelic|Loss of function|microspherophakia (MCSPH)|10312|251750|20179738 ;22025892 ;20617341|HP:0000007 ;HP:0000156 ;HP:0000485 ;HP:0000540 ;HP:0001083 ;HP:0007765 ;HP:0100693
chr14|76044960|76129557|ENSG00000119686.5|ENSG00000119686.5|FLVCR2|FLVCR2|Confirmed DD Gene|Biallelic|Loss of function|Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome|10724|225790|19635601 ;20518025 ;20206334|HP:0000007 ;HP:0000238 ;HP:0000347 ;HP:0001274 ;HP:0001305 ;HP:0001321 ;HP:0001371 ;HP:0001511 ;HP:0001561 ;HP:0001622 ;HP:0001939 ;HP:0002324 ;HP:0002365
chr14|76368479|76550928|ENSG00000119650.8|ENSG00000119650.8|IFT43|IFT43|Confirmed DD Gene|Biallelic|All missense/in frame|cranioectodermal dysplasia type 3 (CED3)|10169|614099|21378380|HP:0000007 ;HP:0000090 ;HP:0000232 ;HP:0000256 ;HP:0000268 ;HP:0000347 ;HP:0000506 ;HP:0000685 ;HP:0000687 ;HP:0000774 ;HP:0000958 ;HP:0000973 ;HP:0001159 ;HP:0001388 ;HP:0001394 ;HP:0002007 ;HP:0003774 ;HP:0004322 ;HP:0004969 ;HP:0200075
chr14|76776957|76968178|ENSG00000119715.10|ENSG00000119715.10|ESRRB|ESRRB|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 35|10980|608565|12529709 ;18179891|HP:0000007 ;HP:0000407
chr14|77741299|77787227|ENSG00000009830.7|ENSG00000009830.7|POMT2|POMT2|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2)|10488|613150|17878207 ;16701995 ;15894594 ;19138766|HP:0000007 ;HP:0000158 ;HP:0000175 ;HP:0000204 ;HP:0000238 ;HP:0000252 ;HP:0000518 ;HP:0000540 ;HP:0000545 ;HP:0000557 ;HP:0000568 ;HP:0000659 ;HP:0001250 ;HP:0001302 ;HP:0001321 ;HP:0001425 ;HP:0002084 ;HP:0002119 ;HP:0002126 ;HP:0002187 ;HP:0002350 ;HP:0002365 ;HP:0002650 ;HP:0002803 ;HP:0003236 ;HP:0003306 ;HP:0003560 ;HP:0003812 ;HP:0006829 ;HP:0007033 ;HP:0007260 ;HP:0007370 ;HP:0009917 ;HP:0010864
chr14|77741299|77787227|ENSG00000009830.7|ENSG00000009830.7|POMT2|POMT2|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2)|10623|613156|19299310 ;19138766 ;17634419|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000158 ;HP:0000194 ;HP:0000252 ;HP:0000486 ;HP:0000545 ;HP:0000580 ;HP:0001249 ;HP:0001265 ;HP:0001270 ;HP:0001284 ;HP:0001321 ;HP:0001371 ;HP:0001712 ;HP:0002079 ;HP:0002093 ;HP:0002119 ;HP:0002120 ;HP:0002650 ;HP:0002827 ;HP:0003236 ;HP:0003307 ;HP:0003324 ;HP:0003560 ;HP:0003701 ;HP:0010628
chr14|77741299|77787227|ENSG00000009830.7|ENSG00000009830.7|POMT2|POMT2|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2)|10624|613158|17923109|HP:0000007 ;HP:0001270 ;HP:0003236 ;HP:0003560 ;HP:0003593 ;HP:0003712 ;HP:0003828 ;HP:0011712
chr14|77893018|77924295|ENSG00000151445.11|ENSG00000151445.11|VIPAS39|VIPAS39|Confirmed DD Gene|Biallelic|Loss of function|Arthrogryposis, renal dysfunction, and cholestasis 2|10824|613404||HP:0000007 ;HP:0000112 ;HP:0000121 ;HP:0000252 ;HP:0000340 ;HP:0000369 ;HP:0000952 ;HP:0001263 ;HP:0001339 ;HP:0001385 ;HP:0001508 ;HP:0001629 ;HP:0001884 ;HP:0001942 ;HP:0001947 ;HP:0002611 ;HP:0002804 ;HP:0002908 ;HP:0002910 ;HP:0008064 ;HP:0009806 ;HP:0200084
chr14|77972340|78083116|ENSG00000100596.2|ENSG00000100596.2|SPTLC2|SPTLC2|Both DD and IF|Monoallelic|All missense/in frame|Neuropathy, hereditary sensory and autonomic, type IC|10137|613640||HP:0000006 ;HP:0000970 ;HP:0001218 ;HP:0001760 ;HP:0002460 ;HP:0002754 ;HP:0002936 ;HP:0007141 ;HP:0200042
chr14|78708734|80330762|ENSG00000021645.13|ENSG00000021645.13|NRXN3|NRXN3|Possible DD Gene|Monoallelic|Loss of function|Autism|10714|209850||HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000728 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001426 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0011463
chr14|81421333|81612646|ENSG00000165409.11|ENSG00000165409.11|TSHR|TSHR|Confirmed DD Gene|Monoallelic|Activating|Hyperthyroidism, familial gestational|10084|603373|9854118|HP:0000006 ;HP:0000836 ;HP:0012188
chr14|81421333|81612646|ENSG00000165409.11|ENSG00000165409.11|TSHR|TSHR|Confirmed DD Gene|Biallelic|All missense/in frame|Hypothyroidism, congenital, nongoitrous, 1|10119|275200|9185526 ;12050212 ;9329388 ;9100579 ;8954020 ;9589691 ;11095460 ;7528344 ;10720030|HP:0000007 ;HP:0000821 ;HP:0002925 ;HP:0003593 ;HP:0005990
chr14|88304164|88460009|ENSG00000054983.12|ENSG00000054983.12|GALC|GALC|Confirmed DD Gene|Biallelic|Loss of function|Krabbe Disease|12293|245200|21070211 ;8786069 ;8297359 ;20886637|HP:0000007 ;HP:0000238 ;HP:0000365 ;HP:0000618 ;HP:0000639 ;HP:0000648 ;HP:0000762 ;HP:0001250 ;HP:0001252 ;HP:0001276 ;HP:0001508 ;HP:0001954 ;HP:0001973 ;HP:0002013 ;HP:0002180 ;HP:0002333 ;HP:0002353 ;HP:0002376 ;HP:0002506 ;HP:0002922 ;HP:0006801 ;HP:0007141 ;HP:0007305 ;HP:0007928 ;HP:0011096
chr14|89290497|89344335|ENSG00000165533.14|ENSG00000165533.14|TTC8|TTC8|Confirmed DD Gene|Biallelic|Uncertain|retinitis pigmentosa type 51 (RP51)|11286|613464|20451172|HP:0000007 ;HP:0000505 ;HP:0007737 ;HP:0007843 ;HP:0008323
chr14|89290497|89344335|ENSG00000165533.14|ENSG00000165533.14|TTC8|TTC8|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 8 (BBS8)|10638|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr14|92432335|92507240|ENSG00000100815.8|ENSG00000100815.8|TRIP11|TRIP11|Confirmed DD Gene|Biallelic|Loss of function|achondrogenesis type 1A (ACG1A)|10939|200600|20089971|HP:0000007 ;HP:0000463 ;HP:0000470 ;HP:0000773 ;HP:0000882 ;HP:0000894 ;HP:0000916 ;HP:0000923 ;HP:0001538 ;HP:0001552 ;HP:0001561 ;HP:0001789 ;HP:0002983 ;HP:0002984 ;HP:0003175 ;HP:0003196 ;HP:0003521 ;HP:0003826 ;HP:0004331 ;HP:0004606 ;HP:0005280 ;HP:0006489 ;HP:0010660 ;HP:0010675
chr14|92788925|92962596|ENSG00000140090.13|ENSG00000140090.13|SLC24A4|SLC24A4|Probable DD gene|Biallelic|Loss of function|Amelogenesis Imperfecta.|13511||23375655|
chr14|93673401|93695561|ENSG00000012963.9|ENSG00000012963.9|UBR7|UBR7|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10044||21937992|
chr14|97263641|97398059|ENSG00000100749.3|ENSG00000100749.3|VRK1|VRK1|Probable DD gene|Biallelic|Loss of function|pontocerebellar hypoplasia type 1|11000|607596|21937992 ;19646678|HP:0000007 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001324 ;HP:0001347 ;HP:0001760 ;HP:0002093 ;HP:0002171 ;HP:0002380 ;HP:0002398 ;HP:0002529 ;HP:0002803 ;HP:0003445 ;HP:0003577 ;HP:0003676 ;HP:0006850 ;HP:0007053 ;HP:0007269 ;HP:0008872
chr14|100704635|100749129|ENSG00000100811.6|ENSG00000100811.6|YY1|YY1|Possible DD Gene|Monoallelic|Uncertain|TRANSCRIPTION FACTOR YY1; YY1|11287|600013||
chr14|102430865|102517129|ENSG00000197102.6|ENSG00000197102.6|DYNC1H1|DYNC1H1|Confirmed DD Gene|Monoallelic|All missense/in frame|Severe ID with neuronal migration disorder|11249|600112||
chr14|102430865|102517129|ENSG00000197102.6|ENSG00000197102.6|DYNC1H1|DYNC1H1|Confirmed DD Gene|Monoallelic|All missense/in frame|Spinal muscular atrophy, lower extremity-predominant, AD|13703|158600|22459677|HP:0000006 ;HP:0001760 ;HP:0002515 ;HP:0003445 ;HP:0003474 ;HP:0003677 ;HP:0007269 ;HP:0008956 ;HP:0008994 ;HP:0009046 ;HP:0010602 ;HP:0011463 ;HP:0011808
chr14|102829300|102968818|ENSG00000196663.11|ENSG00000196663.11|TECPR2|TECPR2|Probable DD gene|Biallelic|Loss of function|Hereditary Spastic Paraparesis|13484|615031|23176824; 23176824|HP:0000007 ;HP:0000248 ;HP:0000252 ;HP:0000294 ;HP:0000311 ;HP:0000678 ;HP:0001250 ;HP:0001260 ;HP:0001263 ;HP:0001284 ;HP:0001310 ;HP:0002020 ;HP:0002059 ;HP:0002064 ;HP:0002066 ;HP:0002319 ;HP:0004322
chr14|105235686|105262088|ENSG00000142208.11|ENSG00000142208.11|AKT1|AKT1|Confirmed DD Gene|Mosaic|Activating|Proteus syndrome|10105|176920||HP:0000256 ;HP:0001010 ;HP:0001012 ;HP:0001028 ;HP:0001140 ;HP:0001528 ;HP:0001548 ;HP:0002176 ;HP:0002342 ;HP:0002751 ;HP:0003416 ;HP:0003745 ;HP:0003764 ;HP:0004472 ;HP:0004490 ;HP:0005465 ;HP:0007403 ;HP:0007483 ;HP:0012032 ;HP:0100764
chr15|23888691|23891175|ENSG00000254585.1|ENSG00000254585.1|MAGEL2|MAGEL2|Confirmed DD Gene|Imprinted|Loss of function|Prader Willi syndrome|13677||24076603|
chr15|25582381|25684128|ENSG00000114062.13|ENSG00000114062.13|UBE3A|UBE3A|Confirmed DD Gene|Imprinted|Loss of function|Angelman Syndrome|11098|105830||HP:0000006 ;HP:0000154 ;HP:0000158 ;HP:0000248 ;HP:0000303 ;HP:0000327 ;HP:0000486 ;HP:0000490 ;HP:0000545 ;HP:0000577 ;HP:0000635 ;HP:0000639 ;HP:0000687 ;HP:0000749 ;HP:0000752 ;HP:0001010 ;HP:0001250 ;HP:0001252 ;HP:0001270 ;HP:0001344 ;HP:0001347 ;HP:0001513 ;HP:0002019 ;HP:0002120 ;HP:0002136 ;HP:0002286 ;HP:0002307 ;HP:0002312 ;HP:0002353 ;HP:0002650 ;HP:0003745 ;HP:0005469 ;HP:0005484 ;HP:0005484 ;HP:0006887 ;HP:0006979 ;HP:0007240 ;HP:0008872 ;HP:0010808 ;HP:0010864 ;HP:0200085
chr15|26788693|27184686|ENSG00000166206.9|ENSG00000166206.9|GABRB3|GABRB3|Confirmed DD Gene|Monoallelic|All missense/in frame|childhood absence epilepsy type 5|11620|612269|18514161|HP:0000006 ;HP:0002121
chr15|26788693|27184686|ENSG00000166206.9|ENSG00000166206.9|GABRB3|GABRB3|Confirmed DD Gene|Monoallelic|All missense/in frame|epileptic encephalopathies|13599||23934111|
chr15|29560353|29562033|ENSG00000185115.4|ENSG00000185115.4|NDNL2|NDNL2|Possible DD Gene|Biallelic|All missense/in frame|Distinct DNA breakage syndrome|13560|||
chr15|31293264|31453476|ENSG00000134160.9|ENSG00000134160.9|TRPM1|TRPM1|Confirmed DD Gene|Biallelic|Loss of function|Night blindness, congenital stationary, type 1C|11153|613216|19896113 ;19878917 ;20300565 ;19896109|HP:0000512 ;HP:0000545 ;HP:0000639 ;HP:0000958 ;HP:0000964 ;HP:0007642 ;HP:0007663
chr15|34525460|34630261|ENSG00000140199.7|ENSG00000140199.7|SLC12A6|SLC12A6|Confirmed DD Gene|Biallelic|Loss of function|agenesis of the corpus callosum with peripheral neuropathy (ACCPN)|10499|218000|12368912 ;17893295 ;21628467 ;16606917|HP:0000007 ;HP:0000156 ;HP:0000248 ;HP:0000276 ;HP:0000294 ;HP:0000316 ;HP:0000324 ;HP:0000327 ;HP:0000341 ;HP:0000400 ;HP:0000431 ;HP:0000508 ;HP:0000709 ;HP:0000763 ;HP:0001182 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001270 ;HP:0001274 ;HP:0001284 ;HP:0001290 ;HP:0001319 ;HP:0001349 ;HP:0001371 ;HP:0002111 ;HP:0002119 ;HP:0002650 ;HP:0002922 ;HP:0003196 ;HP:0003202 ;HP:0003378 ;HP:0003383 ;HP:0003431 ;HP:0003444 ;HP:0003448 ;HP:0003477 ;HP:0003676 ;HP:0003690 ;HP:0004691 ;HP:0007178 ;HP:0011947 ;HP:0200085
chr15|35080297|35088340|ENSG00000159251.6|ENSG00000159251.6|ACTC1|ACTC1|Possible DD Gene|Monoallelic|Uncertain|cardiomyopathy dilated type 1R (CMD1R) |11239|613424||HP:0000006 ;HP:0001635 ;HP:0001712 ;HP:0001723 ;HP:0004308
chr15|35080297|35088340|ENSG00000159251.6|ENSG00000159251.6|ACTC1|ACTC1|Possible DD Gene|Monoallelic|Uncertain|cardiomyopathy familial hypertrophic type 11 (CMH11)|11296|612098||HP:0000006 ;HP:0001639 ;HP:0011675
chr15|35080297|35088340|ENSG00000159251.6|ENSG00000159251.6|ACTC1|ACTC1|Possible DD Gene|Monoallelic|Loss of function|atrial septal defect type 5 (ASD5) |10540|612794||HP:0001631
chr15|38544527|38649450|ENSG00000166068.8|ENSG00000166068.8|SPRED1|SPRED1|Confirmed DD Gene|Monoallelic|Loss of function|Legius syndrome|10806|611431|17704776 ;21649642 ;19366998 ;19443465|HP:0000006 ;HP:0000156 ;HP:0000256 ;HP:0000286 ;HP:0000316 ;HP:0000325 ;HP:0000347 ;HP:0000368 ;HP:0000470 ;HP:0000494 ;HP:0000508 ;HP:0000766 ;HP:0000957 ;HP:0000997 ;HP:0001012 ;HP:0001067 ;HP:0001328 ;HP:0002162 ;HP:0007018
chr15|40453224|40513337|ENSG00000156970.8|ENSG00000156970.8|BUB1B|BUB1B|Confirmed DD Gene|Biallelic|Loss of function|MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1|10644|257300|15475955 ;9916837 ;16411201 ;11169558 ;21190457|HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000048 ;HP:0000054 ;HP:0000062 ;HP:0000107 ;HP:0000175 ;HP:0000207 ;HP:0000238 ;HP:0000248 ;HP:0000252 ;HP:0000272 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000369 ;HP:0000463 ;HP:0000470 ;HP:0000518 ;HP:0000582 ;HP:0000639 ;HP:0000879 ;HP:0001274 ;HP:0001290 ;HP:0001305 ;HP:0001321 ;HP:0001511 ;HP:0001518 ;HP:0001562 ;HP:0001909 ;HP:0002069 ;HP:0002119 ;HP:0002123 ;HP:0002187 ;HP:0002667 ;HP:0002859 ;HP:0003812 ;HP:0004322 ;HP:0005280 ;HP:0005387 ;HP:0006849 ;HP:0006872 ;HP:0008872 ;HP:0008897 ;HP:0011344 ;HP:0200024
chr15|40697686|40728146|ENSG00000128928.4|ENSG00000128928.4|IVD|IVD|Confirmed DD Gene|Biallelic|Loss of function|Isovaleric Acidemia|12509|243500|15486829 ;1310317 ;2063866 ;10677295|HP:0000007 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001873 ;HP:0001876 ;HP:0001882 ;HP:0001942 ;HP:0001944 ;HP:0001993 ;HP:0002013 ;HP:0003108 ;HP:0005528 ;HP:0011695
chr15|40763160|40765353|ENSG00000169105.6|ENSG00000169105.6|CHST14|CHST14|Confirmed DD Gene|Biallelic|Loss of function|Ehlers-Danlos syndrome musculocontractural type|11587|601776||HP:0000007 ;HP:0000028 ;HP:0000100 ;HP:0000156 ;HP:0000160 ;HP:0000175 ;HP:0000219 ;HP:0000239 ;HP:0000248 ;HP:0000270 ;HP:0000308 ;HP:0000316 ;HP:0000324 ;HP:0000337 ;HP:0000343 ;HP:0000358 ;HP:0000365 ;HP:0000412 ;HP:0000482 ;HP:0000486 ;HP:0000494 ;HP:0000501 ;HP:0000506 ;HP:0000541 ;HP:0000545 ;HP:0000592 ;HP:0000593 ;HP:0000767 ;HP:0000974 ;HP:0000978 ;HP:0001030 ;HP:0001166 ;HP:0001181 ;HP:0001249 ;HP:0001270 ;HP:0001373 ;HP:0001388 ;HP:0001537 ;HP:0001540 ;HP:0001581 ;HP:0001631 ;HP:0001762 ;HP:0002019 ;HP:0002036 ;HP:0002107 ;HP:0002119 ;HP:0002246 ;HP:0002566 ;HP:0002650 ;HP:0002761 ;HP:0004425 ;HP:0005684 ;HP:0100699 ;HP:0200086
chr15|40986972|41024354|ENSG00000051180.12|ENSG00000051180.12|RAD51|RAD51|Probable DD gene|Monoallelic|Loss of function|MIRROR MOVEMENTS 2; MRMV2|10698|614508|21242494|HP:0000006 ;HP:0003829
chr15|43235095|43398311|ENSG00000159459.7|ENSG00000159459.7|UBR1|UBR1|Confirmed DD Gene|Biallelic|Loss of function|Johanson-Blizzard syndrome (JBS)|10528|243800|18553553 ;19006206 ;16311597|HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000057 ;HP:0000126 ;HP:0000143 ;HP:0000252 ;HP:0000407 ;HP:0000430 ;HP:0000444 ;HP:0000486 ;HP:0000819 ;HP:0000821 ;HP:0000954 ;HP:0000957 ;HP:0001092 ;HP:0001153 ;HP:0001249 ;HP:0001252 ;HP:0001362 ;HP:0001388 ;HP:0001396 ;HP:0001399 ;HP:0001508 ;HP:0001511 ;HP:0001518 ;HP:0001545 ;HP:0001597 ;HP:0001629 ;HP:0001631 ;HP:0001644 ;HP:0001696 ;HP:0001738 ;HP:0002023 ;HP:0002024 ;HP:0002209 ;HP:0002236 ;HP:0002253 ;HP:0002286 ;HP:0002557 ;HP:0002750 ;HP:0002901 ;HP:0003362 ;HP:0003819 ;HP:0004209 ;HP:0004322 ;HP:0005498 ;HP:0006334 ;HP:0006349 ;HP:0007385 ;HP:0008716 ;HP:0012050
chr15|44854894|44955876|ENSG00000104133.10|ENSG00000104133.10|SPG11|SPG11|Confirmed DD Gene|Biallelic|Loss of function|Spastic paraplegia-11|10801|604360|17717710 ;18067136 ;19194956 ;17322883|HP:0000007 ;HP:0000012 ;HP:0000020 ;HP:0000505 ;HP:0000546 ;HP:0000608 ;HP:0000640 ;HP:0000763 ;HP:0001249 ;HP:0001251 ;HP:0001258 ;HP:0001260 ;HP:0001268 ;HP:0001274 ;HP:0001328 ;HP:0001347 ;HP:0001513 ;HP:0001761 ;HP:0002015 ;HP:0002061 ;HP:0002064 ;HP:0002120 ;HP:0002166 ;HP:0002314 ;HP:0002319 ;HP:0002394 ;HP:0002518 ;HP:0002839 ;HP:0003380 ;HP:0003393 ;HP:0003487 ;HP:0003581 ;HP:0003676 ;HP:0007067 ;HP:0007178 ;HP:0007340 ;HP:0011448 ;HP:0011449 ;HP:0011463
chr15|45653322|45694525|ENSG00000171766.11|ENSG00000171766.11|GATM|GATM|Confirmed DD Gene|Biallelic|Loss of function|arginine:glycine amidinotransferase deficiency (AGAT deficiency)|10402|612718|10762163|HP:0000007 ;HP:0000717 ;HP:0000750 ;HP:0001263 ;HP:0012113
chr15|45879321|45908197|ENSG00000104164.6|ENSG00000104164.6|BLOC1S6|BLOC1S6|Probable DD gene|Biallelic|Loss of function|Hermansky-pudlak syndrome 9|10761|614171|21665000|HP:0000007 ;HP:0001010 ;HP:0007894
chr15|48700503|48938046|ENSG00000166147.9|ENSG00000166147.9|FBN1|FBN1|Confirmed DD Gene|Both|Dominant negative|Marfan syndrome (MFS)|10234|154700|18412115 ;20082464 ;10441597 ;17568394 ;1852208 ;8406497 ;1569206 ;1301946 ;8430317 ;15287423 ;7762551 ;8101042 ;21594992 ;20979188 ;7911051 ;8504310 ;21594993 ;11702223 ;8136837 ;1631074 ;16333834 ;9241263 ;17492313 ;9837823 ;7611299 ;8428751 ;10766875 ;8040326 ;15032979 ;17366579 ;11175294 ;8281141 ;7633409 ;9101298|HP:0000006 ;HP:0000098 ;HP:0000156 ;HP:0000268 ;HP:0000272 ;HP:0000275 ;HP:0000276 ;HP:0000278 ;HP:0000347 ;HP:0000494 ;HP:0000501 ;HP:0000518 ;HP:0000541 ;HP:0000545 ;HP:0000663 ;HP:0000678 ;HP:0000767 ;HP:0000768 ;HP:0001002 ;HP:0001065 ;HP:0001083 ;HP:0001166 ;HP:0001371 ;HP:0001382 ;HP:0001548 ;HP:0001634 ;HP:0001635 ;HP:0001653 ;HP:0001659 ;HP:0001704 ;HP:0001761 ;HP:0001763 ;HP:0001765 ;HP:0002097 ;HP:0002107 ;HP:0002616 ;HP:0002631 ;HP:0002647 ;HP:0002751 ;HP:0002816 ;HP:0003088 ;HP:0003179 ;HP:0003199 ;HP:0003302 ;HP:0004872 ;HP:0004927 ;HP:0005136 ;HP:0007676 ;HP:0007800 ;HP:0008132 ;HP:0100775
chr15|48700503|48938046|ENSG00000166147.9|ENSG00000166147.9|FBN1|FBN1|Confirmed DD Gene|Monoallelic|Uncertain|isolated ectopia lentis (EL)|11222|129600|7802039 ;8136837 ;22539873|HP:0000006 ;HP:0001083
chr15|48700503|48938046|ENSG00000166147.9|ENSG00000166147.9|FBN1|FBN1|Confirmed DD Gene|Monoallelic|Uncertain|Weill-Marchesani syndrome autosomal dominant (ADWMS)|11223|608328||HP:0000006 ;HP:0000189 ;HP:0000248 ;HP:0000327 ;HP:0000501 ;HP:0000518 ;HP:0000586 ;HP:0000594 ;HP:0000618 ;HP:0000692 ;HP:0000885 ;HP:0001083 ;HP:0001156 ;HP:0001169 ;HP:0001230 ;HP:0001256 ;HP:0001387 ;HP:0001629 ;HP:0001642 ;HP:0001643 ;HP:0001650 ;HP:0001653 ;HP:0001783 ;HP:0002650 ;HP:0002682 ;HP:0002753 ;HP:0002938 ;HP:0003416 ;HP:0003508 ;HP:0005280 ;HP:0006482 ;HP:0009768 ;HP:0011003
chr15|48700503|48938046|ENSG00000166147.9|ENSG00000166147.9|FBN1|FBN1|Confirmed DD Gene|Monoallelic|Dominant negative|Shprintzen-Goldberg craniosynostosis syndrome (SGS)|10241|182212|8071963 ;23103230 ;23023332 ;16333834|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000156 ;HP:0000238 ;HP:0000252 ;HP:0000260 ;HP:0000268 ;HP:0000316 ;HP:0000327 ;HP:0000347 ;HP:0000368 ;HP:0000377 ;HP:0000405 ;HP:0000463 ;HP:0000486 ;HP:0000494 ;HP:0000506 ;HP:0000508 ;HP:0000545 ;HP:0000586 ;HP:0000689 ;HP:0000767 ;HP:0000768 ;HP:0000883 ;HP:0000895 ;HP:0000938 ;HP:0000974 ;HP:0001166 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001363 ;HP:0001388 ;HP:0001537 ;HP:0001634 ;HP:0001724 ;HP:0001762 ;HP:0001763 ;HP:0001840 ;HP:0002007 ;HP:0002020 ;HP:0002650 ;HP:0002816 ;HP:0002857 ;HP:0002870 ;HP:0002970 ;HP:0003016 ;HP:0003083 ;HP:0003717 ;HP:0003745 ;HP:0005815 ;HP:0007099 ;HP:0008440 ;HP:0008872 ;HP:0009023 ;HP:0009473
chr15|48700503|48938046|ENSG00000166147.9|ENSG00000166147.9|FBN1|FBN1|Confirmed DD Gene|Monoallelic|Uncertain|MASS SYNDROME/overlap connective tissue disease (OCTD)|11224|604308|8406497|HP:0000006 ;HP:0000766 ;HP:0001065 ;HP:0001519 ;HP:0001634 ;HP:0001724
chr15|48700503|48938046|ENSG00000166147.9|ENSG00000166147.9|FBN1|FBN1|Confirmed DD Gene|Monoallelic|Dominant negative|stiff skin syndrome (SSKS)|10242|184900|20375004|HP:0000006 ;HP:0000951 ;HP:0001324 ;HP:0001371 ;HP:0001376 ;HP:0004322 ;HP:0009125 ;HP:0009830
chr15|49005125|49103343|ENSG00000103995.9|ENSG00000103995.9|CEP152|CEP152|Confirmed DD Gene|Biallelic|Loss of function|microcephaly primary type 4 (MCPH4)|10356|604321||HP:0000007 ;HP:0000718 ;HP:0001335 ;HP:0100710
chr15|49005125|49103343|ENSG00000103995.9|ENSG00000103995.9|CEP152|CEP152|Confirmed DD Gene|Biallelic|Loss of function|Seckel syndrome type 5 (SCKL5)|10547|613823|21131973|
chr15|52599480|52821247|ENSG00000197535.10|ENSG00000197535.10|MYO5A|MYO5A|Confirmed DD Gene|Biallelic|Loss of function|Griscelli syndrome type 3 (GS3)|10454|609227|12148598|HP:0000007 ;HP:0000478 ;HP:0001425 ;HP:0002218 ;HP:0002721 ;HP:0004527
chr15|52599480|52821247|ENSG00000197535.10|ENSG00000197535.10|MYO5A|MYO5A|Confirmed DD Gene|Biallelic|Loss of function|Elejalde syndrome (ELEJAS)|10595|256710||HP:0000007 ;HP:0000577 ;HP:0000639 ;HP:0001008 ;HP:0001010 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0002218 ;HP:0002220 ;HP:0003593 ;HP:0003819
chr15|55702723|55800432|ENSG00000256061.3|ENSG00000256061.3|DYX1C1|DYX1C1|Confirmed DD Gene|Biallelic|Loss of function|Primary ciliary dysplasia|13594||23872636|
chr15|57210821|57591479|ENSG00000140262.13|ENSG00000140262.13|TCF12|TCF12|Confirmed DD Gene|Monoallelic|Loss of function|Coronal Craniosynostosis|13520||23354436|
chr15|65369154|65372276|ENSG00000234438.2|ENSG00000234438.2|KBTBD13|KBTBD13|Confirmed DD Gene|Monoallelic|All missense/in frame|Nemaline myopathy 6|10131|609273|12805120 ;21104864 ;21109227|HP:0000006 ;HP:0001288 ;HP:0003198 ;HP:0003551 ;HP:0003552 ;HP:0003677 ;HP:0003690 ;HP:0003722 ;HP:0003798 ;HP:0009046
chr15|65903704|65953333|ENSG00000074621.9|ENSG00000074621.9|SLC24A1|SLC24A1|Possible DD Gene|Biallelic|Loss of function|Night blindness, congenital stationary, type 1D |10735|613830||HP:0000007
chr15|66679155|66784650|ENSG00000169032.5|ENSG00000169032.5|MAP2K1|MAP2K1|Confirmed DD Gene|Monoallelic|Activating|cardiofaciocutaneous syndrome (CFC syndrome)|10062|115150||HP:0000006 ;HP:0000126 ;HP:0000156 ;HP:0000164 ;HP:0000176 ;HP:0000238 ;HP:0000268 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000365 ;HP:0000414 ;HP:0000463 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000520 ;HP:0000529 ;HP:0000545 ;HP:0000561 ;HP:0000639 ;HP:0000657 ;HP:0000767 ;HP:0000768 ;HP:0000938 ;HP:0000962 ;HP:0001003 ;HP:0001047 ;HP:0001048 ;HP:0001093 ;HP:0001187 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001276 ;HP:0001508 ;HP:0001561 ;HP:0001622 ;HP:0001631 ;HP:0001639 ;HP:0001642 ;HP:0001744 ;HP:0002002 ;HP:0002013 ;HP:0002019 ;HP:0002020 ;HP:0002120 ;HP:0002212 ;HP:0002217 ;HP:0002223 ;HP:0002750 ;HP:0003196 ;HP:0003477 ;HP:0003577 ;HP:0004209 ;HP:0004322 ;HP:0004482 ;HP:0005280 ;HP:0006114 ;HP:0007333 ;HP:0007370 ;HP:0008064 ;HP:0008070 ;HP:0008113 ;HP:0008872 ;HP:0009891 ;HP:0009908 ;HP:0011220
chr15|67356101|67487533|ENSG00000166949.11|ENSG00000166949.11|SMAD3|SMAD3|Both DD and IF|Monoallelic|Loss of function|SMAD3-Related Loeys-Dietz Syndrome|11078|319643||
chr15|68499330|68549549|ENSG00000128973.7|ENSG00000128973.7|CLN6|CLN6|Both DD and IF|Biallelic|Loss of function|Ceroid lipofuscinosis, neuronal, 6|10764|601780||HP:0000007 ;HP:0000529 ;HP:0000546 ;HP:0001250 ;HP:0001311 ;HP:0002074 ;HP:0002333 ;HP:0003205 ;HP:0003208
chr15|68499330|68549549|ENSG00000128973.7|ENSG00000128973.7|CLN6|CLN6|Both DD and IF|Biallelic|All missense/in frame|Ceroid lipofuscinosis, neuronal, Kufs type, adult onset|10164|204300||HP:0000007 ;HP:0000716 ;HP:0000726 ;HP:0001250 ;HP:0001251 ;HP:0001336 ;HP:0002059 ;HP:0002071 ;HP:0002074 ;HP:0002352 ;HP:0002367 ;HP:0003205 ;HP:0003208 ;HP:0003226 ;HP:0003581 ;HP:0003657 ;HP:0008765
chr15|72635775|72668817|ENSG00000213614.5|ENSG00000213614.5|HEXA|HEXA|Confirmed DD Gene|Biallelic|Loss of function|GM2-gangliosidosis type 1 (GM2G1)|10854|272800|1301190 ;1837283 ;8490625 ;3362213 ;8757036 ;1322637 ;1302612 ;9272736 ;2976595 ;1483696 ;14648242 ;1827945 ;1532289 ;2848800 ;3754980 ;21937992 ;1825014 ;2522679 ;2961848 ;2140574 ;9603435 ;6959123 ;2934978 ;1301958 ;1833974 ;1384323 ;15108204 ;2954459 ;9401004|HP:0000007 ;HP:0000618 ;HP:0000726 ;HP:0000741 ;HP:0001250 ;HP:0001252 ;HP:0002267 ;HP:0002361 ;HP:0002421 ;HP:0002835 ;HP:0003495 ;HP:0003593 ;HP:0010729
chr15|72978527|73030817|ENSG00000140463.9|ENSG00000140463.9|BBS4|BBS4|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 4 (BBS4)|10343|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr15|74471807|74504608|ENSG00000137868.14|ENSG00000137868.14|STRA6|STRA6|Confirmed DD Gene|Biallelic|Loss of function|microphthalmia syndromic type 9 (MCOPS9)|10294|601186|21901792 ;17503335 ;17273977 ;19839040 ;11857549|HP:0000007 ;HP:0000013 ;HP:0000023 ;HP:0000028 ;HP:0000085 ;HP:0000089 ;HP:0000125 ;HP:0000126 ;HP:0000347 ;HP:0000369 ;HP:0000431 ;HP:0000528 ;HP:0000581 ;HP:0000776 ;HP:0000813 ;HP:0001252 ;HP:0001511 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001642 ;HP:0001643 ;HP:0001660 ;HP:0001680 ;HP:0001750 ;HP:0002089 ;HP:0002093 ;HP:0002187 ;HP:0002627 ;HP:0004322 ;HP:0004712 ;HP:0004935 ;HP:0005156 ;HP:0005311 ;HP:0005944 ;HP:0006270 ;HP:0007633 ;HP:0009110
chr15|75182346|75191798|ENSG00000178802.13|ENSG00000178802.13|MPI|MPI|Confirmed DD Gene|Biallelic|Loss of function|Congenital Disorders of Glycosylation|11055|602579|9585601 ;9525984 ;3080572|HP:0000007 ;HP:0000825 ;HP:0001252 ;HP:0001394 ;HP:0001395 ;HP:0001399 ;HP:0001508 ;HP:0001892 ;HP:0001929 ;HP:0001976 ;HP:0001977 ;HP:0002013 ;HP:0002014 ;HP:0002240 ;HP:0002243 ;HP:0003073 ;HP:0003642 ;HP:0011473
chr15|76507696|76603813|ENSG00000140374.11|ENSG00000140374.11|ETFA|ETFA|Confirmed DD Gene|Biallelic|Loss of function|glutaric aciduria type 2A|10948|231680|1430199 ;1882842 ;12815589 ;7912128 ;12815589 ;17412732 ;19249206 ;12815589|HP:0000007 ;HP:0000078 ;HP:0000113 ;HP:0000256 ;HP:0000260 ;HP:0000348 ;HP:0000377 ;HP:0000506 ;HP:0000519 ;HP:0000803 ;HP:0000806 ;HP:0000952 ;HP:0001252 ;HP:0001302 ;HP:0001324 ;HP:0001325 ;HP:0001397 ;HP:0001943 ;HP:0001999 ;HP:0002013 ;HP:0002018 ;HP:0002089 ;HP:0002098 ;HP:0002171 ;HP:0002240 ;HP:0002614 ;HP:0002909 ;HP:0003076 ;HP:0003150 ;HP:0003219 ;HP:0003490 ;HP:0003530 ;HP:0003647 ;HP:0003811 ;HP:0005280
chr15|76640526|77197785|ENSG00000140386.8|ENSG00000140386.8|SCAPER|SCAPER|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10039||21937992|
chr15|78396948|78423886|ENSG00000136425.8|ENSG00000136425.8|CIB2|CIB2|Confirmed DD Gene|Biallelic|All missense/in frame|Nonsyndromic deafness DFNB48|13475|609439|23023331; 23023331|HP:0000007 ;HP:0001751 ;HP:0011476
chr15|78396948|78423886|ENSG00000136425.8|ENSG00000136425.8|CIB2|CIB2|Confirmed DD Gene|Biallelic|Loss of function|Usher syndrome type 1J|13476|614869|18505454; 23023331|HP:0000007 ;HP:0000510 ;HP:0001270 ;HP:0001751 ;HP:0003577
chr15|79502130|79502213|ENSG00000207695.1|ENSG00000207695.1|MIR184|MIR184|Possible DD Gene|Monoallelic|Uncertain|Keratoconus with cataract |11368|614303||HP:0000006 ;HP:0000482 ;HP:0000483 ;HP:0000505
chr15|80444832|80479288|ENSG00000103876.7|ENSG00000103876.7|FAH|FAH|Confirmed DD Gene|Biallelic|Loss of function|tyrosinemia type 1|10951|276700|8318997 ;11196105 ;8364576 ;1401056 ;7977370 ;8829657 ;8162054 ;7757089|HP:0000007 ;HP:0000083 ;HP:0000096 ;HP:0000121 ;HP:0001394 ;HP:0001402 ;HP:0001508 ;HP:0001541 ;HP:0001639 ;HP:0001744 ;HP:0001892 ;HP:0001943 ;HP:0001994 ;HP:0002239 ;HP:0002240 ;HP:0002590 ;HP:0002910 ;HP:0003163 ;HP:0003231 ;HP:0003235 ;HP:0003768 ;HP:0004298 ;HP:0004510 ;HP:0004912 ;HP:0006254 ;HP:0006554 ;HP:0006949
chr15|89346674|89418585|ENSG00000157766.11|ENSG00000157766.11|ACAN|ACAN|Both DD and IF|Monoallelic|Loss of function|spondyloepiphyseal dysplasia type Kimberley (SEDK)|10923|608361||HP:0000006 ;HP:0000926 ;HP:0002655 ;HP:0002750 ;HP:0002857 ;HP:0002970 ;HP:0003370 ;HP:0003508
chr15|89346674|89418585|ENSG00000157766.11|ENSG00000157766.11|ACAN|ACAN|Both DD and IF|Biallelic|All missense/in frame|spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN)|10176|612813||HP:0000007 ;HP:0000272 ;HP:0000303 ;HP:0000358 ;HP:0000369 ;HP:0000470 ;HP:0001388 ;HP:0001552 ;HP:0001609 ;HP:0002938 ;HP:0003027 ;HP:0004482 ;HP:0005285 ;HP:0008905 ;HP:0009381 ;HP:0011304
chr15|89787180|89860492|ENSG00000140525.13|ENSG00000140525.13|FANCI|FANCI|Confirmed DD Gene|Biallelic|Loss of function|FANCI-Related Fanconi Anemia|11033|234476||
chr15|89787180|89860492|ENSG00000140525.13|ENSG00000140525.13|FANCI|FANCI|Confirmed DD Gene|Biallelic|Loss of function|Fanconi Anemia|11034|229154||
chr15|90152020|90198682|ENSG00000166813.10|ENSG00000166813.10|KIF7|KIF7|Confirmed DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10027||21937992|
chr15|90152020|90198682|ENSG00000166813.10|ENSG00000166813.10|KIF7|KIF7|Confirmed DD Gene|Biallelic|Loss of function|Acrocallosal syndrome|10680|200990||HP:0000006 ;HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000143 ;HP:0000156 ;HP:0000175 ;HP:0000194 ;HP:0000204 ;HP:0000207 ;HP:0000213 ;HP:0000256 ;HP:0000260 ;HP:0000269 ;HP:0000286 ;HP:0000308 ;HP:0000316 ;HP:0000319 ;HP:0000322 ;HP:0000337 ;HP:0000343 ;HP:0000358 ;HP:0000365 ;HP:0000377 ;HP:0000384 ;HP:0000431 ;HP:0000486 ;HP:0000494 ;HP:0000589 ;HP:0000639 ;HP:0000648 ;HP:0000685 ;HP:0001162 ;HP:0001177 ;HP:0001182 ;HP:0001249 ;HP:0001250 ;HP:0001290 ;HP:0001425 ;HP:0001508 ;HP:0001510 ;HP:0001537 ;HP:0001671 ;HP:0001770 ;HP:0001830 ;HP:0001841 ;HP:0002007 ;HP:0002023 ;HP:0002564 ;HP:0003196 ;HP:0003812 ;HP:0004209 ;HP:0005148 ;HP:0006101 ;HP:0007370 ;HP:0007894 ;HP:0008897 ;HP:0009611 ;HP:0009942 ;HP:0010066 ;HP:0010576 ;HP:0010864 ;HP:0011220
chr15|90303822|90321982|ENSG00000188095.3|ENSG00000188095.3|MESP2|MESP2|Confirmed DD Gene|Biallelic|Loss of function|spondylocostal dysostosis type 2 (SCDO2)|10443|608681|18485326 ;15122512|HP:0000007 ;HP:0000470 ;HP:0000902 ;HP:0002111 ;HP:0003422
chr15|91260558|91358859|ENSG00000197299.6|ENSG00000197299.6|BLM|BLM|Confirmed DD Gene|Biallelic|Loss of function|Bloom syndrome|10670|210900||HP:0000007 ;HP:0000027 ;HP:0000028 ;HP:0000252 ;HP:0000268 ;HP:0000272 ;HP:0000275 ;HP:0000412 ;HP:0000448 ;HP:0000690 ;HP:0000868 ;HP:0000957 ;HP:0000992 ;HP:0000998 ;HP:0001159 ;HP:0001161 ;HP:0001256 ;HP:0001328 ;HP:0001511 ;HP:0001620 ;HP:0001909 ;HP:0002110 ;HP:0002665 ;HP:0002720 ;HP:0002850 ;HP:0002860 ;HP:0003220 ;HP:0004209 ;HP:0004315 ;HP:0005585 ;HP:0005590 ;HP:0005598 ;HP:0005978 ;HP:0006528 ;HP:0008897
chr15|91541646|91565833|ENSG00000184056.10|ENSG00000184056.10|VPS33B|VPS33B|Confirmed DD Gene|Biallelic|Loss of function|Arthrogryposis, Renal Dysfunction, and Cholestasis 1|11101|319164||
chr15|93426526|93571237|ENSG00000173575.14|ENSG00000173575.14|CHD2|CHD2|Confirmed DD Gene|Monoallelic|Loss of function|Epileptic encephalopathy|13586|615369|23708187|
chr15|96869167|96883492|ENSG00000185551.8|ENSG00000185551.8|NR2F2|NR2F2|Confirmed DD Gene|Monoallelic|Loss of function|Congenital heart defects, multiple types, 4|13734|615779|24702954|
chr15|99192200|99507759|ENSG00000140443.9|ENSG00000140443.9|IGF1R|IGF1R|Confirmed DD Gene|Both|Loss of function|Insulin-like growth factor I, resistance to|13418|270450|14657428|HP:0000006 ;HP:0000007 ;HP:0000219 ;HP:0000252 ;HP:0000319 ;HP:0000343 ;HP:0000431 ;HP:0000713 ;HP:0000739 ;HP:0000750 ;HP:0000767 ;HP:0001270 ;HP:0001511 ;HP:0001547 ;HP:0001939 ;HP:0001999 ;HP:0002750 ;HP:0003577 ;HP:0004322 ;HP:0004325 ;HP:0009466 ;HP:0200086
chr15|101099574|101143435|ENSG00000140471.12|ENSG00000140471.12|LINS|LINS|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10030||21937992|
chr15|101417919|101456831|ENSG00000184254.12|ENSG00000184254.12|ALDH1A3|ALDH1A3|Confirmed DD Gene|Biallelic|Loss of function|Anophthalmia/microphthalmia|13509||23312594|
chr15|101715928|101792137|ENSG00000131873.5|ENSG00000131873.5|CHSY1|CHSY1|Confirmed DD Gene|Biallelic|Loss of function|Temtamy preaxial brachydactyly syndrome|10716|605282|21129728 ;19952732 ;9823490 ;21129727|HP:0000007 ;HP:0000175 ;HP:0000592 ;HP:0000648 ;HP:0000664 ;HP:0000691 ;HP:0000699 ;HP:0001159 ;HP:0001234 ;HP:0002002 ;HP:0002553 ;HP:0002974 ;HP:0008368 ;HP:0008619 ;HP:0009702 ;HP:0010049 ;HP:0010743 ;HP:0011087
chr16|337440|402673|ENSG00000103126.10|ENSG00000103126.10|AXIN1|AXIN1|Possible DD Gene|Uncertain|Cis-regulatory or promotor mutation|caudal duplication anomaly|10231|607864||
chr16|772582|776954|ENSG00000162004.12|ENSG00000162004.12|CCDC78|CCDC78|Probable DD gene|Monoallelic|Loss of function|Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores|13401|614807|22818856|HP:0000006 ;HP:0003326
chr16|1401924|1413352|ENSG00000090581.5|ENSG00000090581.5|GNPTG|GNPTG|Confirmed DD Gene|Biallelic|Loss of function|mucolipidosis type III complementation group C (MLIIIC)|10407|252605|19659762 ;19370764 ;20034096 ;10712439|HP:0000007 ;HP:0000280 ;HP:0000470 ;HP:0000545 ;HP:0000768 ;HP:0000943 ;HP:0001155 ;HP:0001256 ;HP:0001547 ;HP:0001650 ;HP:0001659 ;HP:0002650 ;HP:0002808 ;HP:0002829 ;HP:0002857 ;HP:0002869 ;HP:0003307 ;HP:0003333 ;HP:0003370 ;HP:0004322 ;HP:0007759
chr16|1494935|1525581|ENSG00000103249.13|ENSG00000103249.13|CLCN7|CLCN7|Confirmed DD Gene|Biallelic|Loss of function|CLCN7-Related Osteopetrosis|12005|611490|11741829 ;11207362 ;17033731|HP:0000007 ;HP:0001433 ;HP:0001903 ;HP:0001923 ;HP:0002757 ;HP:0010628 ;HP:0011002
chr16|1560428|1662111|ENSG00000187535.9|ENSG00000187535.9|IFT140|IFT140|Confirmed DD Gene|Biallelic|Loss of function|Mainzer-Saldino Syndrome|11191|266920|22503633; 22503633|HP:0000007 ;HP:0000090 ;HP:0000107 ;HP:0000110 ;HP:0000112 ;HP:0000252 ;HP:0000510 ;HP:0000572 ;HP:0000639 ;HP:0000773 ;HP:0001251 ;HP:0001363 ;HP:0001395 ;HP:0001396 ;HP:0001903 ;HP:0002240 ;HP:0003090 ;HP:0003593 ;HP:0003774 ;HP:0004322 ;HP:0009803 ;HP:0010579 ;HP:0100543 ;HP:0100864
chr16|2034208|2037750|ENSG00000127554.12|ENSG00000127554.12|GFER|GFER|Possible DD Gene|Biallelic|Loss of function|mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD|10275|613076||HP:0000007 ;HP:0000407 ;HP:0000518 ;HP:0001263 ;HP:0003198 ;HP:0008972
chr16|2097466|2138716|ENSG00000103197.12|ENSG00000103197.12|TSC2|TSC2|Confirmed DD Gene|Monoallelic|Loss of function|tuberous sclerosis type 2 (TSC2)|10525|613254|9463313 ;17120248 ;11403047 ;8634701 ;7581393 ;19259131 ;9302281 ;12752578 ;10206124 ;8825048 ;8824881 ;9361032 ;10069705|HP:0000006 ;HP:0000107 ;HP:0000169 ;HP:0000717 ;HP:0000821 ;HP:0000826 ;HP:0000957 ;HP:0001249 ;HP:0001328 ;HP:0001482 ;HP:0001716 ;HP:0002514 ;HP:0002888 ;HP:0003812 ;HP:0005584 ;HP:0006772 ;HP:0007018 ;HP:0009592 ;HP:0009716 ;HP:0009717 ;HP:0009720 ;HP:0009721 ;HP:0009724 ;HP:0009727 ;HP:0009729 ;HP:0009734 ;HP:0010762 ;HP:0011097
chr16|2097466|2138716|ENSG00000103197.12|ENSG00000103197.12|TSC2|TSC2|Confirmed DD Gene|Monoallelic|Loss of function|lymphangioleiomyomatosis (LAM)|10637|606690||
chr16|2525147|2555735|ENSG00000162065.7|ENSG00000162065.7|TBC1D24|TBC1D24|Confirmed DD Gene|Biallelic|All missense/in frame|Myoclonic epilepsy, infantile, familial|10138|605021|20797691 ;10741954; 20727515|HP:0000007 ;HP:0001297 ;HP:0002069 ;HP:0002123 ;HP:0002373 ;HP:0003674 ;HP:0003828 ;HP:0007359
chr16|2525147|2555735|ENSG00000162065.7|ENSG00000162065.7|TBC1D24|TBC1D24|Confirmed DD Gene|Biallelic|Loss of function|DOORS syndrome|13692|220500|24291220|HP:0000007 ;HP:0000104 ;HP:0000156 ;HP:0000232 ;HP:0000252 ;HP:0000280 ;HP:0000343 ;HP:0000369 ;HP:0000407 ;HP:0000414 ;HP:0000431 ;HP:0000448 ;HP:0000463 ;HP:0000518 ;HP:0000618 ;HP:0000648 ;HP:0000800 ;HP:0000951 ;HP:0001199 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001305 ;HP:0001798 ;HP:0002059 ;HP:0002164 ;HP:0002564 ;HP:0002714 ;HP:0003676 ;HP:0008384 ;HP:0008619 ;HP:0009882 ;HP:0011003 ;HP:0011476
chr16|2525147|2555735|ENSG00000162065.7|ENSG00000162065.7|TBC1D24|TBC1D24|Confirmed DD Gene|Biallelic|All missense/in frame|Non syndromal hearing loss|13693|||
chr16|3631182|3661599|ENSG00000188827.6|ENSG00000188827.6|SLX4|SLX4|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia complementation group P|11172|613951|21240275 ;21240277|HP:0000007 ;HP:0000028 ;HP:0000085 ;HP:0000125 ;HP:0000252 ;HP:0000347 ;HP:0000365 ;HP:0000414 ;HP:0000581 ;HP:0000957 ;HP:0001045 ;HP:0001903 ;HP:0002860 ;HP:0002984 ;HP:0003828 ;HP:0004322 ;HP:0009777 ;HP:0009778
chr16|3775055|3930727|ENSG00000005339.8|ENSG00000005339.8|CREBBP|CREBBP|Confirmed DD Gene|Monoallelic|Loss of function|Rubinstein-Taybi syndrome type 1 (RSTS1)|10352|180849|20684013 ;12114483 ;12566391 ;11331617 ;7630403|HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000049 ;HP:0000077 ;HP:0000136 ;HP:0000156 ;HP:0000160 ;HP:0000252 ;HP:0000260 ;HP:0000270 ;HP:0000273 ;HP:0000278 ;HP:0000286 ;HP:0000294 ;HP:0000327 ;HP:0000347 ;HP:0000365 ;HP:0000369 ;HP:0000377 ;HP:0000431 ;HP:0000444 ;HP:0000481 ;HP:0000486 ;HP:0000494 ;HP:0000501 ;HP:0000508 ;HP:0000518 ;HP:0000520 ;HP:0000527 ;HP:0000539 ;HP:0000574 ;HP:0000579 ;HP:0000589 ;HP:0000663 ;HP:0000678 ;HP:0000689 ;HP:0000717 ;HP:0000733 ;HP:0000736 ;HP:0000742 ;HP:0000750 ;HP:0000752 ;HP:0000756 ;HP:0000767 ;HP:0000954 ;HP:0000957 ;HP:0001007 ;HP:0001042 ;HP:0001135 ;HP:0001159 ;HP:0001212 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001274 ;HP:0001335 ;HP:0001347 ;HP:0001371 ;HP:0001388 ;HP:0001425 ;HP:0001508 ;HP:0001561 ;HP:0001601 ;HP:0001629 ;HP:0001631 ;HP:0001643 ;HP:0001763 ;HP:0001956 ;HP:0002007 ;HP:0002019 ;HP:0002144 ;HP:0002162 ;HP:0002183 ;HP:0002236 ;HP:0002251 ;HP:0002317 ;HP:0002353 ;HP:0002370 ;HP:0002553 ;HP:0002650 ;HP:0002697 ;HP:0002700 ;HP:0002750 ;HP:0002788 ;HP:0002866 ;HP:0002869 ;HP:0002870 ;HP:0002880 ;HP:0002999 ;HP:0003083 ;HP:0003298 ;HP:0003319 ;HP:0003745 ;HP:0003828 ;HP:0004209 ;HP:0004322 ;HP:0004411 ;HP:0005306 ;HP:0005743 ;HP:0005895 ;HP:0006297 ;HP:0006483 ;HP:0008107 ;HP:0008872 ;HP:0008897 ;HP:0009715 ;HP:0009765 ;HP:0009921 ;HP:0010055 ;HP:0010066 ;HP:0010314 ;HP:0010442 ;HP:0010562 ;HP:0010775 ;HP:0011087 ;HP:0011304 ;HP:0011675 ;HP:0100710
chr16|4364762|4389598|ENSG00000126603.4|ENSG00000126603.4|GLIS2|GLIS2|Probable DD gene|Biallelic|Loss of function|Nephronophthisis 7|10805|611498|17618285|HP:0000007 ;HP:0000090 ;HP:0000092 ;HP:0003774
chr16|4846969|4852951|ENSG00000067836.8|ENSG00000067836.8|ROGDI|ROGDI|Confirmed DD Gene|Biallelic|Loss of function|Kohlschtter-Tnz Syndrome|11181|226750|3236364 ;16411202 ;22482807 ;7625549 ;8133980 ;22424600; 22424600|HP:0000007 ;HP:0000705 ;HP:0000726 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0001263 ;HP:0001321 ;HP:0002059 ;HP:0002119 ;HP:0002376 ;HP:0002521 ;HP:0003828 ;HP:0006297 ;HP:0010864
chr16|5083703|5137380|ENSG00000033011.7|ENSG00000033011.7|ALG1|ALG1|Confirmed DD Gene|Biallelic|Loss of function|ALG1-CDG (CDG-Ik)|11003|300141||
chr16|8619502|8622304|ENSG00000232258.2|ENSG00000232258.2|TMEM114|TMEM114|Possible DD Gene|Monoallelic|Loss of function|congenital and juvenile cataract|10296|611579||
chr16|8882680|8943188|ENSG00000140650.7|ENSG00000140650.7|PMM2|PMM2|Confirmed DD Gene|Biallelic|Loss of function|Congenital Disorders of Glycosylation|11064|212065|9887379 ;11916319 ;9781039 ;10602363 ;10527672 ;9140401 ;9497260 ;21937992 ;17307006 ;19235233 ;10922383|HP:0000007 ;HP:0000093 ;HP:0000100 ;HP:0000107 ;HP:0000114 ;HP:0000219 ;HP:0000252 ;HP:0000400 ;HP:0000510 ;HP:0000565 ;HP:0000639 ;HP:0000815 ;HP:0000821 ;HP:0000938 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001265 ;HP:0001271 ;HP:0001324 ;HP:0001324 ;HP:0001371 ;HP:0001395 ;HP:0001397 ;HP:0001508 ;HP:0001560 ;HP:0001587 ;HP:0001638 ;HP:0001698 ;HP:0001790 ;HP:0001894 ;HP:0001929 ;HP:0001976 ;HP:0002013 ;HP:0002014 ;HP:0002240 ;HP:0002401 ;HP:0002720 ;HP:0002808 ;HP:0002910 ;HP:0003073 ;HP:0003146 ;HP:0003186 ;HP:0003642 ;HP:0003645 ;HP:0004315 ;HP:0005280 ;HP:0006955 ;HP:0007552 ;HP:0008151 ;HP:0008872 ;HP:0011220 ;HP:0200086
chr16|9852376|10276611|ENSG00000183454.9|ENSG00000183454.9|GRIN2A|GRIN2A|Confirmed DD Gene|Monoallelic|Loss of function|Epilepsy with neurodevelopmental defects|10690|613971|23033978 ;20890276; 20890276|HP:0000006 ;HP:0000252 ;HP:0001249 ;HP:0002123 ;HP:0002373 ;HP:0003828
chr16|9852376|10276611|ENSG00000183454.9|ENSG00000183454.9|GRIN2A|GRIN2A|Confirmed DD Gene|Monoallelic|Loss of function|Landau-Kleffner syndrome|13595|245570|23933818|HP:0000708 ;HP:0001250 ;HP:0002353 ;HP:0002381 ;HP:0010524
chr16|14014014|14046202|ENSG00000175595.10|ENSG00000175595.10|ERCC4|ERCC4|Confirmed DD Gene|Biallelic|Loss of function|Xeroderma pigmentosum, group F|10646|278760|3372781 ;8797827|HP:0000007 ;HP:0000992 ;HP:0002011 ;HP:0003079 ;HP:0007587 ;HP:0008069 ;HP:0200034
chr16|14014014|14046202|ENSG00000175595.10|ENSG00000175595.10|ERCC4|ERCC4|Confirmed DD Gene|Biallelic|Loss of function|XFE progeroid syndrome|10647|610965|17183314|HP:0000252 ;HP:0000365 ;HP:0000490 ;HP:0000505 ;HP:0000648 ;HP:0000822 ;HP:0000958 ;HP:0001256 ;HP:0001541 ;HP:0001620 ;HP:0002370 ;HP:0002910 ;HP:0003510 ;HP:0004326 ;HP:0006297 ;HP:0007495 ;HP:0007519
chr16|14014014|14046202|ENSG00000175595.10|ENSG00000175595.10|ERCC4|ERCC4|Confirmed DD Gene|Biallelic|Loss of function|Fanconi Anemia|13549||23623386|
chr16|15737124|15820210|ENSG00000072864.8|ENSG00000072864.8|NDE1|NDE1|Confirmed DD Gene|Biallelic|Loss of function|Lissencephaly 4 (with microcephaly)|10763|614019|21529751 ;21529752|HP:0000007 ;HP:0001250 ;HP:0001263 ;HP:0001274 ;HP:0001276 ;HP:0001339 ;HP:0002187 ;HP:0003577 ;HP:0004322
chr16|16242785|16317379|ENSG00000091262.10|ENSG00000091262.10|ABCC6|ABCC6|Confirmed DD Gene|Biallelic|Loss of function|Arterial calcification, generalized, of infancy, 2|10707|614473|22209248|HP:0000007 ;HP:0000121 ;HP:0000822 ;HP:0001635 ;HP:0001658 ;HP:0001717 ;HP:0004912
chr16|17195626|17564738|ENSG00000103489.7|ENSG00000103489.7|XYLT1|XYLT1|Confirmed DD Gene|Biallelic|Loss of function|Desbuquois dysplasia 2|13730|615777|24581741|
chr16|21689835|21772050|ENSG00000155719.12|ENSG00000155719.12|OTOA|OTOA|Possible DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 22|11511|607039|19888295|HP:0000007 ;HP:0000407
chr16|23399814|23464501|ENSG00000168434.8|ENSG00000168434.8|COG7|COG7|Confirmed DD Gene|Biallelic|Loss of function|COG7-CDG (CDG-IIe)|11020|300171||
chr16|23614488|23652631|ENSG00000083093.5|ENSG00000083093.5|PALB2|PALB2|Confirmed DD Gene|Biallelic|Loss of function|FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN|10641|610832|17200671 ;17200672|HP:0000007 ;HP:0000252 ;HP:0000286 ;HP:0000316 ;HP:0000470 ;HP:0000957 ;HP:0001629 ;HP:0001915 ;HP:0002667 ;HP:0002885 ;HP:0003006 ;HP:0003221 ;HP:0008897 ;HP:0009778
chr16|28477974|28503333|ENSG00000261832.1|ENSG00000261832.1|CLN3|CLN3|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 3 (CLN3)|10839|204200|7553855 ;19489875 ;7887420 ;9450775|HP:0000007 ;HP:0000510 ;HP:0000529 ;HP:0000550 ;HP:0000608 ;HP:0000618 ;HP:0000648 ;HP:0000709 ;HP:0000726 ;HP:0000739 ;HP:0001249 ;HP:0001250 ;HP:0001260 ;HP:0001300 ;HP:0001317 ;HP:0001336 ;HP:0001922 ;HP:0002059 ;HP:0002074 ;HP:0002361 ;HP:0002505 ;HP:0003205 ;HP:0003208 ;HP:0003463
chr16|28853732|28857729|ENSG00000178952.4|ENSG00000178952.4|TUFM|TUFM|Probable DD gene|Biallelic|All missense/in frame|Combined Oxidative Phosphorylation Deficiency 4|10210|610678|17160893|HP:0000007 ;HP:0000252 ;HP:0000639 ;HP:0001522 ;HP:0001942 ;HP:0001987 ;HP:0002126 ;HP:0002179 ;HP:0002240 ;HP:0002376 ;HP:0003128
chr16|29802040|29816706|ENSG00000079616.8|ENSG00000079616.8|KIF22|KIF22|Confirmed DD Gene|Monoallelic|Activating|Spondyloepimetaphyseal dysplasia with joint laxity, type 2|10090|603546|22152678 ;19277648|HP:0000006 ;HP:0000272 ;HP:0000977 ;HP:0001252 ;HP:0001374 ;HP:0001388 ;HP:0001498 ;HP:0002650 ;HP:0002651 ;HP:0002857 ;HP:0003015 ;HP:0003025 ;HP:0003071 ;HP:0003083 ;HP:0003090 ;HP:0003301 ;HP:0003370 ;HP:0004322 ;HP:0005008 ;HP:0005092 ;HP:0005121 ;HP:0006016 ;HP:0006127 ;HP:0006454 ;HP:0008457 ;HP:0008819 ;HP:0009836 ;HP:0010301 ;HP:0010582 ;HP:0010585 ;HP:0012296 ;HP:0012297 ;HP:0012299
chr16|29823177|29827201|ENSG00000167371.12|ENSG00000167371.12|PRRT2|PRRT2|Confirmed DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10036||21937992|
chr16|29823177|29827201|ENSG00000167371.12|ENSG00000167371.12|PRRT2|PRRT2|Confirmed DD Gene|Monoallelic|Loss of function|Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome|11367|602066|22243967 ;22543779 ;22744660|HP:0000006 ;HP:0000739 ;HP:0002197 ;HP:0002268 ;HP:0002372 ;HP:0007098 ;HP:0007359
chr16|30064411|30081778|ENSG00000149925.12|ENSG00000149925.12|ALDOA|ALDOA|Confirmed DD Gene|Biallelic|All missense/in frame|Glycogen storage disease XII|11796|611881|2825199 ;8598869; 2825199|HP:0000007 ;HP:0000286 ;HP:0000470 ;HP:0000508 ;HP:0000823 ;HP:0000952 ;HP:0001081 ;HP:0001082 ;HP:0001249 ;HP:0001744 ;HP:0001895 ;HP:0001897 ;HP:0001930 ;HP:0002162 ;HP:0003198 ;HP:0004322
chr16|30709530|30755602|ENSG00000080603.12|ENSG00000080603.12|SRCAP|SRCAP|Confirmed DD Gene|Monoallelic|Dominant negative|Floating-Harbor syndrome|10699|136140|22265015 ;20358590|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000121 ;HP:0000126 ;HP:0000154 ;HP:0000213 ;HP:0000319 ;HP:0000325 ;HP:0000358 ;HP:0000403 ;HP:0000405 ;HP:0000448 ;HP:0000470 ;HP:0000486 ;HP:0000490 ;HP:0000527 ;HP:0000540 ;HP:0001007 ;HP:0001388 ;HP:0001537 ;HP:0001631 ;HP:0001680 ;HP:0002162 ;HP:0002474 ;HP:0002608 ;HP:0002714 ;HP:0002750 ;HP:0004209 ;HP:0004322 ;HP:0005301 ;HP:0010230 ;HP:0010957 ;HP:0011599
chr16|46723555|46732306|ENSG00000091651.4|ENSG00000091651.4|ORC6|ORC6|Confirmed DD Gene|Biallelic|Loss of function|Meier-Gorlin syndrome 3|10683|613803|7710253|HP:0000007 ;HP:0000028 ;HP:0000046 ;HP:0000160 ;HP:0000179 ;HP:0000252 ;HP:0000308 ;HP:0000325 ;HP:0000327 ;HP:0000773 ;HP:0000774 ;HP:0001508 ;HP:0001511 ;HP:0002094 ;HP:0002750 ;HP:0002812 ;HP:0002970 ;HP:0003100 ;HP:0003187 ;HP:0003561 ;HP:0006498 ;HP:0006532 ;HP:0006628 ;HP:0008551 ;HP:0008665 ;HP:0010306 ;HP:0011968
chr16|51169886|51185278|ENSG00000103449.7|ENSG00000103449.7|SALL1|SALL1|Confirmed DD Gene|Monoallelic|Loss of function|Townes-Brocks syndrome (TBS)|10502|107480|14755477 ;10928856 ;18000979 ;9973281 ;9425907 ;17431915 ;10533063 ;11484202|HP:0000003 ;HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000048 ;HP:0000076 ;HP:0000083 ;HP:0000089 ;HP:0000110 ;HP:0000136 ;HP:0000143 ;HP:0000252 ;HP:0000384 ;HP:0000400 ;HP:0000407 ;HP:0000567 ;HP:0000821 ;HP:0001177 ;HP:0001199 ;HP:0001249 ;HP:0001440 ;HP:0001537 ;HP:0001629 ;HP:0001636 ;HP:0001864 ;HP:0002020 ;HP:0002023 ;HP:0002025 ;HP:0002247 ;HP:0004453 ;HP:0004467 ;HP:0004691 ;HP:0004792 ;HP:0006097 ;HP:0006179 ;HP:0008551 ;HP:0009779 ;HP:0009921 ;HP:0009944 ;HP:0010331 ;HP:0010481 ;HP:0010709 ;HP:0010743 ;HP:0011304 ;HP:0100015
chr16|53631595|53737850|ENSG00000103494.8|ENSG00000103494.8|RPGRIP1L|RPGRIP1L|Confirmed DD Gene|Biallelic|Loss of function|Joubert syndrome type 7 (JBTS7)|11123|611560|17558407 ;18565097 ;17558409|HP:0000007 ;HP:0000090 ;HP:0000508 ;HP:0000639 ;HP:0000657 ;HP:0001249 ;HP:0001251 ;HP:0002084 ;HP:0002419 ;HP:0100259
chr16|53631595|53737850|ENSG00000103494.8|ENSG00000103494.8|RPGRIP1L|RPGRIP1L|Confirmed DD Gene|Biallelic|Loss of function|Meckel syndrome type 5 (MKS5)|11141|611561|17558409|HP:0000007 ;HP:0000079 ;HP:0000175 ;HP:0000204 ;HP:0000568 ;HP:0001162 ;HP:0001408 ;HP:0001425 ;HP:0001830 ;HP:0002085 ;HP:0002323 ;HP:0006487
chr16|53631595|53737850|ENSG00000103494.8|ENSG00000103494.8|RPGRIP1L|RPGRIP1L|Confirmed DD Gene|Biallelic|Loss of function|COACH syndrome (COACHS)|11142|216360||HP:0000007 ;HP:0000083 ;HP:0000090 ;HP:0000154 ;HP:0000272 ;HP:0000311 ;HP:0000316 ;HP:0000463 ;HP:0000508 ;HP:0000589 ;HP:0000639 ;HP:0000657 ;HP:0001162 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001320 ;HP:0001347 ;HP:0001394 ;HP:0001409 ;HP:0001425 ;HP:0001510 ;HP:0001744 ;HP:0002085 ;HP:0002240 ;HP:0002342 ;HP:0002910 ;HP:0003593 ;HP:0008659
chr16|53737875|54155853|ENSG00000140718.14|ENSG00000140718.14|FTO|FTO|Possible DD Gene|Biallelic|All missense/in frame|growth retardation developmental delay coarse facies and early death|11619|612938|19559399|HP:0000007 ;HP:0000028 ;HP:0000158 ;HP:0000175 ;HP:0000193 ;HP:0000238 ;HP:0000252 ;HP:0000278 ;HP:0000280 ;HP:0000407 ;HP:0000463 ;HP:0000470 ;HP:0000965 ;HP:0001156 ;HP:0001250 ;HP:0001263 ;HP:0001276 ;HP:0001305 ;HP:0001339 ;HP:0001508 ;HP:0001511 ;HP:0001513 ;HP:0001537 ;HP:0001629 ;HP:0001639 ;HP:0001643 ;HP:0001792 ;HP:0002678 ;HP:0010808
chr16|54964774|54968397|ENSG00000176842.10|ENSG00000176842.10|IRX5|IRX5|Probable DD gene|Biallelic|All missense/in frame|HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY|13370|611174||HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000154 ;HP:0000156 ;HP:0000248 ;HP:0000316 ;HP:0000319 ;HP:0000343 ;HP:0000369 ;HP:0000384 ;HP:0000407 ;HP:0000431 ;HP:0000463 ;HP:0000465 ;HP:0000668 ;HP:0000689 ;HP:0000767 ;HP:0000829 ;HP:0000938 ;HP:0001159 ;HP:0001182 ;HP:0001363 ;HP:0001385 ;HP:0001631 ;HP:0001653 ;HP:0001931 ;HP:0001935 ;HP:0002015 ;HP:0002162 ;HP:0002376 ;HP:0005338 ;HP:0009536 ;HP:0010511 ;HP:0011003 ;HP:0011343 ;HP:0200021
chr16|56225302|56391356|ENSG00000087258.9|ENSG00000087258.9|GNAO1|GNAO1|Confirmed DD Gene|Monoallelic|Loss of function|Epileptic encephalopathy|13636||23993195|
chr16|56500748|56554195|ENSG00000125124.7|ENSG00000125124.7|BBS2|BBS2|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 2 (BBS2)|10342|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr16|57481337|57495187|ENSG00000088682.9|ENSG00000088682.9|COQ9|COQ9|Confirmed DD Gene|Biallelic|Loss of function|coenzyme Q10 deficiency|11590|614654|19375058; 19375058|HP:0000007 ;HP:0001263 ;HP:0001272 ;HP:0001347 ;HP:0001612 ;HP:0001712 ;HP:0002059 ;HP:0002151 ;HP:0003128 ;HP:0005484 ;HP:0011968
chr16|57644564|57698944|ENSG00000205336.7|ENSG00000205336.7|GPR56|GPR56|Confirmed DD Gene|Biallelic|Loss of function|Polymicrogyria|11042|606854|15044805|HP:0000007 ;HP:0000565 ;HP:0000577 ;HP:0000639 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001276 ;HP:0001321 ;HP:0001347 ;HP:0002078 ;HP:0002136 ;HP:0002365 ;HP:0003487 ;HP:0006821 ;HP:0007095 ;HP:0007266 ;HP:0011448
chr16|66541906|66586447|ENSG00000166548.11|ENSG00000166548.11|TK2|TK2|Confirmed DD Gene|Biallelic|All missense/in frame|Mitochondrial DNA Depletion Syndrome, Myopathic Form|10207|258276||
chr16|67197288|67203848|ENSG00000102878.11|ENSG00000102878.11|HSF4|HSF4|Confirmed DD Gene|Monoallelic|Uncertain|cataract zonular HSF4-related (CZ-HSF4)|11207|116800|12089525|HP:0000006 ;HP:0001134 ;HP:0001167 ;HP:0007971 ;HP:0010693 ;HP:0010920 ;HP:0100018
chr16|67197288|67203848|ENSG00000102878.11|ENSG00000102878.11|HSF4|HSF4|Confirmed DD Gene|Monoallelic|Uncertain|cataract Marner type (CAM)|11231|116800|12089525|HP:0000006 ;HP:0001134 ;HP:0001167 ;HP:0007971 ;HP:0010693 ;HP:0010920 ;HP:0100018
chr16|67596310|67673086|ENSG00000102974.10|ENSG00000102974.10|CTCF|CTCF|Confirmed DD Gene|Monoallelic|Loss of function|Intellectual disability|13645||23746550|
chr16|67973653|67978034|ENSG00000213398.3|ENSG00000213398.3|LCAT|LCAT|Possible DD Gene|Biallelic|Loss of function|lecithin-cholesterol acyltransferase deficiency|10952|245900||HP:0000007 ;HP:0000083 ;HP:0000093 ;HP:0001878 ;HP:0001895 ;HP:0002155 ;HP:0003233 ;HP:0007759
chr16|68670092|68756519|ENSG00000062038.9|ENSG00000062038.9|CDH3|CDH3|Confirmed DD Gene|Biallelic|Loss of function|EEM Syndrome|11967|280238|15805154|
chr16|68670092|68756519|ENSG00000062038.9|ENSG00000062038.9|CDH3|CDH3|Confirmed DD Gene|Biallelic|Loss of function|Hypotrichosis, congenital, with juvenile macular dystrophy	|13505|601553|12445216 ;11544476; 11544476|HP:0000007 ;HP:0000164 ;HP:0000618 ;HP:0001006 ;HP:0001597 ;HP:0003777 ;HP:0007754
chr16|69354043|69373570|ENSG00000213380.9|ENSG00000213380.9|COG8|COG8|Confirmed DD Gene|Biallelic|Loss of function|COG8-CDG (CDG-IIh)|11021|300204||
chr16|70514471|70557468|ENSG00000103051.14|ENSG00000103051.14|COG4|COG4|Confirmed DD Gene|Biallelic|Loss of function|COG4-CDG (CDG-IIj)|11018|319493||
chr16|70841281|71264625|ENSG00000157423.13|ENSG00000157423.13|HYDIN|HYDIN|Confirmed DD Gene|Biallelic|Loss of function|CILIARY DYSKINESIA, PRIMARY, 5; CILD5|13456|608647|14985390 ;23022101; 23022101|HP:0000007 ;HP:0000403 ;HP:0000462 ;HP:0002110 ;HP:0002837 ;HP:0003593 ;HP:0011108 ;HP:0012265 ;HP:0200073
chr16|71599563|71611033|ENSG00000198650.6|ENSG00000198650.6|TAT|TAT|Confirmed DD Gene|Biallelic|Loss of function|tyrosinemia type 2 (TYRO2)|10337|276600|1357662|HP:0000007 ;HP:0000951 ;HP:0001249 ;HP:0001510 ;HP:0003161 ;HP:0003231 ;HP:0007812
chr16|72042487|72058954|ENSG00000102967.7|ENSG00000102967.7|DHODH|DHODH|Confirmed DD Gene|Biallelic|Loss of function|postaxial acrofacial dysostosis (POADS)|11111|263750|19915526|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000077 ;HP:0000175 ;HP:0000204 ;HP:0000272 ;HP:0000347 ;HP:0000369 ;HP:0000378 ;HP:0000405 ;HP:0000453 ;HP:0000494 ;HP:0000625 ;HP:0000656 ;HP:0000698 ;HP:0000767 ;HP:0001159 ;HP:0001374 ;HP:0001760 ;HP:0002021 ;HP:0002558 ;HP:0002946 ;HP:0002974 ;HP:0002984 ;HP:0003022 ;HP:0005211 ;HP:0008897 ;HP:0009778
chr16|75661622|75682541|ENSG00000065427.10|ENSG00000065427.10|KARS|KARS|Both DD and IF|Biallelic|Loss of function|Charcot-Marie-Tooth disease, recessive intermediate, B	|12519|613641|20920668|HP:0000007 ;HP:0001263 ;HP:0001265 ;HP:0001284 ;HP:0001761 ;HP:0002936 ;HP:0009027 ;HP:0009588
chr16|75661622|75682541|ENSG00000065427.10|ENSG00000065427.10|KARS|KARS|Both DD and IF|Biallelic|All missense/in frame|Deafness, autosomal recessive 89	|13646|613916|23768514|HP:0000007
chr16|77281710|77469011|ENSG00000140873.11|ENSG00000140873.11|ADAMTS18|ADAMTS18|Possible DD Gene|Biallelic|All missense/in frame|Knobloch syndrome 2	|13506|608454| 21862674|HP:0000007 ;HP:0000268 ;HP:0000394 ;HP:0000505 ;HP:0000518 ;HP:0000541 ;HP:0000655 ;HP:0001083 ;HP:0001195 ;HP:0001595 ;HP:0001629 ;HP:0001643 ;HP:0002021 ;HP:0002085 ;HP:0002436 ;HP:0002789 ;HP:0006529 ;HP:0011003
chr16|79619740|79634611|ENSG00000178573.6|ENSG00000178573.6|MAF|MAF|Confirmed DD Gene|Monoallelic|Uncertain|cataract pulverulent juvenile-onset MAF-related (CAPJOM)|11385|610202|11772997 ;16470690|HP:0000006 ;HP:0000482 ;HP:0000612 ;HP:0007780 ;HP:0007976
chr16|79619740|79634611|ENSG00000178573.6|ENSG00000178573.6|MAF|MAF|Confirmed DD Gene|Monoallelic|Uncertain|cataract congenital cerulean type 4 (CCA4)|11393|610202|11772997 ;16470690|HP:0000006 ;HP:0000482 ;HP:0000612 ;HP:0007780 ;HP:0007976
chr16|81115566|81130008|ENSG00000140905.5|ENSG00000140905.5|GCSH|GCSH|Possible DD Gene|Biallelic|Loss of function|Glycine Encephalopathy|12314|605899||HP:0000007 ;HP:0000711 ;HP:0000718 ;HP:0000737 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001265 ;HP:0001274 ;HP:0001336 ;HP:0001347 ;HP:0001522 ;HP:0002154 ;HP:0003108 ;HP:0008288 ;HP:0100247 ;HP:0100710
chr16|81772702|81991899|ENSG00000197943.5|ENSG00000197943.5|PLCG2|PLCG2|Possible DD Gene|Monoallelic|All missense/in frame|AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID|13459|614878|23000145|HP:0000006 ;HP:0000518 ;HP:0002719 ;HP:0002720 ;HP:0002829 ;HP:0002850 ;HP:0003593 ;HP:0006515 ;HP:0010783 ;HP:0011950 ;HP:0100279 ;HP:0100658 ;HP:0200020
chr16|81772702|81991899|ENSG00000197943.5|ENSG00000197943.5|PLCG2|PLCG2|Possible DD Gene|Monoallelic|Loss of function|Familial cold autoinflammatory syndrome 3	|13460|614468||HP:0000006 ;HP:0000872 ;HP:0001045 ;HP:0002099 ;HP:0002719 ;HP:0003193
chr16|83932731|83949787|ENSG00000103150.4|ENSG00000103150.4|MLYCD|MLYCD|Confirmed DD Gene|Biallelic|Loss of function|Malonyl-CoA Decarboxylase Deficiency|11050|167676||
chr16|86544133|86548076|ENSG00000103241.5|ENSG00000103241.5|FOXF1|FOXF1|Confirmed DD Gene|Monoallelic|Loss of function|alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)|10390|265380||HP:0000007 ;HP:0000822 ;HP:0001643 ;HP:0001694 ;HP:0002092 ;HP:0003811 ;HP:0011718
chr16|86600857|86602539|ENSG00000176692.4|ENSG00000176692.4|FOXC2|FOXC2|Confirmed DD Gene|Monoallelic|Loss of function|Hereditary Lymphedema II|12256|241432||
chr16|86600857|86602539|ENSG00000176692.4|ENSG00000176692.4|FOXC2|FOXC2|Confirmed DD Gene|Monoallelic|Loss of function|Lymphedema-Distichiasis Syndrome|12257|153400|12485195 ;11499682 ;12114478 ;14269895 ;11078474 ;11371511 ;10417285 ;15523639|HP:0000006 ;HP:0000175 ;HP:0000204 ;HP:0000495 ;HP:0000508 ;HP:0000509 ;HP:0000613 ;HP:0001004 ;HP:0001629 ;HP:0001636 ;HP:0001643 ;HP:0002619 ;HP:0003011 ;HP:0003550 ;HP:0009743 ;HP:0011675
chr16|87921625|87970135|ENSG00000174990.3|ENSG00000174990.3|CA5A|CA5A|Probable DD gene|Biallelic|Loss of function|Hyperammonemia due to carbonic anhydrase VA deficiency|13731|615751|24530203|
chr16|88869621|88875666|ENSG00000167513.4|ENSG00000167513.4|CDT1|CDT1|Confirmed DD Gene|Biallelic|Loss of function|Meier-Gorlin syndrome 4|11149|613804|21358632 ;11992493|HP:0000007 ;HP:0000028 ;HP:0000160 ;HP:0000179 ;HP:0000252 ;HP:0000327 ;HP:0000347 ;HP:0000369 ;HP:0000895 ;HP:0001508 ;HP:0001511 ;HP:0002097 ;HP:0002750 ;HP:0002816 ;HP:0003100 ;HP:0003187 ;HP:0003561 ;HP:0006443 ;HP:0008551 ;HP:0011968
chr16|88880142|88923378|ENSG00000141012.8|ENSG00000141012.8|GALNS|GALNS|Both DD and IF|Biallelic|Loss of function|mucopolysaccharidosis type 4A (MPS4A)|10846|253000||HP:0000007 ;HP:0000023 ;HP:0000154 ;HP:0000280 ;HP:0000303 ;HP:0000365 ;HP:0000670 ;HP:0000683 ;HP:0000687 ;HP:0000884 ;HP:0000904 ;HP:0000926 ;HP:0000939 ;HP:0001223 ;HP:0001388 ;HP:0001654 ;HP:0002091 ;HP:0002240 ;HP:0002318 ;HP:0002650 ;HP:0002673 ;HP:0002788 ;HP:0002808 ;HP:0002857 ;HP:0003016 ;HP:0003049 ;HP:0003053 ;HP:0003277 ;HP:0003300 ;HP:0003307 ;HP:0003308 ;HP:0003311 ;HP:0003521 ;HP:0003621 ;HP:0007759 ;HP:0012069 ;HP:0012070
chr16|89238175|89261900|ENSG00000129910.3|ENSG00000129910.3|CDH15|CDH15|Confirmed DD Gene|Monoallelic|Loss of function|mental retardation autosomal dominant type 3 (MRD3)|10348|612580|19012874|HP:0000006 ;HP:0001249
chr16|89334038|89556969|ENSG00000167522.10|ENSG00000167522.10|ANKRD11|ANKRD11|Confirmed DD Gene|Monoallelic|Loss of function|KBG syndrome|10756|148050|15523620 ;21782149 ;15378538|HP:0000006 ;HP:0000028 ;HP:0000252 ;HP:0000294 ;HP:0000311 ;HP:0000316 ;HP:0000325 ;HP:0000343 ;HP:0000400 ;HP:0000430 ;HP:0000463 ;HP:0000506 ;HP:0000574 ;HP:0000637 ;HP:0000677 ;HP:0000891 ;HP:0000902 ;HP:0000954 ;HP:0001159 ;HP:0001249 ;HP:0001263 ;HP:0001566 ;HP:0001572 ;HP:0002162 ;HP:0002750 ;HP:0002942 ;HP:0002948 ;HP:0004322 ;HP:0008438 ;HP:0009466
chr16|89710839|89724253|ENSG00000131165.10|ENSG00000131165.10|CHMP1A|CHMP1A|Probable DD gene|Biallelic|Loss of function|Pontocerebellar hypoplasia and microcephaly|13474|614961|23023333; 23023333|HP:0000007 ;HP:0000483 ;HP:0000540 ;HP:0000545 ;HP:0000565 ;HP:0000639 ;HP:0000998 ;HP:0001249 ;HP:0001257 ;HP:0001263 ;HP:0001321 ;HP:0001347 ;HP:0001761 ;HP:0001762 ;HP:0002015 ;HP:0002020 ;HP:0002072 ;HP:0002319 ;HP:0002365 ;HP:0002465 ;HP:0002804 ;HP:0003577 ;HP:0004684 ;HP:0005484 ;HP:0008936 ;HP:0100704
chr16|89803957|89883065|ENSG00000187741.10|ENSG00000187741.10|FANCA|FANCA|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia, complementation group A|11148|227650|12827451 ;8896564 ;11344308 ;10431244 ;15523645 ;12447395|HP:0000028 ;HP:0000081 ;HP:0000085 ;HP:0000086 ;HP:0000104 ;HP:0000252 ;HP:0000365 ;HP:0000486 ;HP:0000568 ;HP:0000792 ;HP:0000815 ;HP:0000957 ;HP:0000978 ;HP:0001017 ;HP:0001249 ;HP:0001518 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001896 ;HP:0001903 ;HP:0001909 ;HP:0002564 ;HP:0003213 ;HP:0003214 ;HP:0003221 ;HP:0003974 ;HP:0004322 ;HP:0009777 ;HP:0009778 ;HP:0009943
chr17|1247566|1303672|ENSG00000108953.12|ENSG00000108953.12|YWHAE|YWHAE|Possible DD Gene|Monoallelic|Uncertain||13428||22495311|
chr17|2496504|2588909|ENSG00000007168.8|ENSG00000007168.8|PAFAH1B1|PAFAH1B1|Confirmed DD Gene|Monoallelic|Loss of function|lissencephaly type 1 (LIS1)|10434|607432|11502906 ;10441340 ;14581661 ;15007136|HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001285 ;HP:0001302 ;HP:0001321 ;HP:0001339 ;HP:0002119 ;HP:0002282 ;HP:0002365 ;HP:0002500 ;HP:0003745 ;HP:0003828 ;HP:0005484 ;HP:0008936
chr17|2496504|2588909|ENSG00000007168.8|ENSG00000007168.8|PAFAH1B1|PAFAH1B1|Confirmed DD Gene|Monoallelic|Loss of function|subcortical band heterotopia (SBH)|10588|607432|11502906 ;10441340 ;14581661 ;15007136|HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001285 ;HP:0001302 ;HP:0001321 ;HP:0001339 ;HP:0002119 ;HP:0002282 ;HP:0002365 ;HP:0002500 ;HP:0003745 ;HP:0003828 ;HP:0005484 ;HP:0008936
chr17|3375668|3406713|ENSG00000108381.6|ENSG00000108381.6|ASPA|ASPA|Confirmed DD Gene|Biallelic|Loss of function|Canavan Disease|11844|271900|16437572 ;8088831 ;8023850 ;8252036 ;8659549 ;7599639 ;10564886 ;7668285 ;10909858 ;12638939|HP:0000007 ;HP:0000256 ;HP:0000365 ;HP:0000618 ;HP:0000639 ;HP:0000648 ;HP:0001252 ;HP:0001476 ;HP:0002179 ;HP:0002197 ;HP:0002376 ;HP:0002977 ;HP:0007305
chr17|3413796|3461289|ENSG00000167723.10|ENSG00000167723.10|TRPV3|TRPV3|Probable DD gene|Monoallelic|All missense/in frame|Olmsted syndrome (OS)|10222|614594|22405088; 22405088|HP:0000006 ;HP:0000975 ;HP:0000989 ;HP:0001036 ;HP:0001371 ;HP:0002164 ;HP:0002289 ;HP:0007759 ;HP:0008070 ;HP:0008392 ;HP:0008404
chr17|3539762|3564836|ENSG00000040531.10|ENSG00000040531.10|CTNS|CTNS|Confirmed DD Gene|Biallelic|Loss of function|cystinosis nephropathic type (CTNS)|10842|219800|10556299 ;12442267 ;11505338 ;11565547 ;9792862 ;10673275 ;9537412|HP:0000007 ;HP:0000083 ;HP:0000093 ;HP:0000103 ;HP:0000495 ;HP:0000505 ;HP:0000531 ;HP:0000613 ;HP:0000787 ;HP:0000819 ;HP:0000823 ;HP:0000832 ;HP:0000897 ;HP:0000966 ;HP:0001010 ;HP:0001531 ;HP:0001608 ;HP:0001738 ;HP:0001744 ;HP:0001944 ;HP:0001959 ;HP:0001994 ;HP:0002007 ;HP:0002015 ;HP:0002059 ;HP:0002240 ;HP:0002344 ;HP:0002750 ;HP:0002857 ;HP:0002902 ;HP:0002907 ;HP:0002909 ;HP:0003016 ;HP:0003076 ;HP:0003198 ;HP:0003202 ;HP:0003251 ;HP:0003358 ;HP:0004322 ;HP:0004911 ;HP:0004912 ;HP:0005599 ;HP:0007869
chr17|3539762|3564836|ENSG00000040531.10|ENSG00000040531.10|CTNS|CTNS|Confirmed DD Gene|Biallelic|Loss of function|cystinosis adult non-nephropathic type (CTNSANN)|10843|219750|10625078 ;11505338|HP:0000007 ;HP:0000079 ;HP:0000531 ;HP:0000613
chr17|3539762|3564836|ENSG00000040531.10|ENSG00000040531.10|CTNS|CTNS|Confirmed DD Gene|Biallelic|Loss of function|cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN)|10844|219900|10556299 ;19863563 ;10444339|HP:0000007 ;HP:0000093 ;HP:0000488 ;HP:0000531 ;HP:0001507 ;HP:0002748 ;HP:0003358 ;HP:0003621 ;HP:0003774
chr17|6297013|6338519|ENSG00000129221.10|ENSG00000129221.10|AIPL1|AIPL1|Confirmed DD Gene|Biallelic|Loss of function|Leber congenital amaurosis 4	|13425|604393|10615133 ;10873396; 10615133|HP:0000007 ;HP:0000543 ;HP:0000563 ;HP:0007401 ;HP:0007663 ;HP:0007688 ;HP:0007843 ;HP:0012043
chr17|6588032|6616886|ENSG00000141485.11|ENSG00000141485.11|SLC13A5|SLC13A5|Probable DD gene|Biallelic|All missense/in frame|Epileptic Encephalopathy with Seizure Onset in the First Days of Life|13739||24995870|
chr17|7120444|7128592|ENSG00000072778.15|ENSG00000072778.15|ACADVL|ACADVL|Confirmed DD Gene|Biallelic|Loss of function|Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency|11749|201475|7668252 ;9709714 ;11158518 ;9546340 ;8554073 ;7479827 ;10790204; 7668252|HP:0000007 ;HP:0001252 ;HP:0001254 ;HP:0001324 ;HP:0001397 ;HP:0001404 ;HP:0001639 ;HP:0001645 ;HP:0001958 ;HP:0002013 ;HP:0002240 ;HP:0002789 ;HP:0003215 ;HP:0003234 ;HP:0003236 ;HP:0003552 ;HP:0003738 ;HP:0008305 ;HP:0009045
chr17|7486847|7496107|ENSG00000129255.10|ENSG00000129255.10|MPDU1|MPDU1|Confirmed DD Gene|Biallelic|Loss of function|Congenital Disorders of Glycosylation|11053|609180|11733556 ;11733564|
chr17|7743222|7758114|ENSG00000132510.6|ENSG00000132510.6|KDM6B|KDM6B|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10026||21937992|
chr17|8130191|8151362|ENSG00000178971.9|ENSG00000178971.9|CTC1|CTC1|Confirmed DD Gene|Biallelic|Loss of function|Cerebroretinal microangiopathy with calcifications and cysts|10672|612199|22267198 ;22387016|HP:0000007 ;HP:0000618 ;HP:0000648 ;HP:0000938 ;HP:0000939 ;HP:0000963 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0001260 ;HP:0001268 ;HP:0001332 ;HP:0001337 ;HP:0001511 ;HP:0001873 ;HP:0001903 ;HP:0002062 ;HP:0002071 ;HP:0002164 ;HP:0002301 ;HP:0002352 ;HP:0002415 ;HP:0002514 ;HP:0002584 ;HP:0002650 ;HP:0002745 ;HP:0002756 ;HP:0002857 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0004322 ;HP:0004979 ;HP:0005528 ;HP:0007763 ;HP:0007898 ;HP:0008070 ;HP:0008897 ;HP:0100864
chr17|10293639|10325267|ENSG00000133020.4|ENSG00000133020.4|MYH8|MYH8|Both DD and IF|Monoallelic|All missense/in frame|Carney complex variant (CACOV)|11476|608837||HP:0000006 ;HP:0000211 ;HP:0005684 ;HP:0011672
chr17|10293639|10325267|ENSG00000133020.4|ENSG00000133020.4|MYH8|MYH8|Both DD and IF|Monoallelic|Loss of function|distal arthrogryposis type (DA7)|11477|158300||HP:0000006 ;HP:0000211 ;HP:0000256 ;HP:0000324 ;HP:0000347 ;HP:0000508 ;HP:0001762 ;HP:0001765 ;HP:0001840 ;HP:0002002 ;HP:0002015 ;HP:0002827 ;HP:0004322 ;HP:0010621 ;HP:0011968
chr17|10531843|10560626|ENSG00000109063.10|ENSG00000109063.10|MYH3|MYH3|Confirmed DD Gene|Monoallelic|Uncertain|distal arthrogryposis type 2A (DA2A)|11266|193700|16642020|HP:0000006 ;HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000160 ;HP:0000218 ;HP:0000252 ;HP:0000272 ;HP:0000286 ;HP:0000298 ;HP:0000303 ;HP:0000343 ;HP:0000346 ;HP:0000430 ;HP:0000431 ;HP:0000470 ;HP:0000486 ;HP:0000490 ;HP:0000506 ;HP:0000508 ;HP:0000581 ;HP:0000951 ;HP:0001181 ;HP:0001193 ;HP:0001249 ;HP:0001250 ;HP:0001272 ;HP:0001324 ;HP:0001508 ;HP:0001518 ;HP:0001611 ;HP:0001623 ;HP:0001762 ;HP:0001838 ;HP:0001945 ;HP:0002047 ;HP:0002365 ;HP:0002751 ;HP:0002827 ;HP:0003044 ;HP:0003196 ;HP:0003273 ;HP:0003298 ;HP:0005830 ;HP:0006380 ;HP:0006958 ;HP:0008897 ;HP:0010751 ;HP:0011220 ;HP:0011824
chr17|10531843|10560626|ENSG00000109063.10|ENSG00000109063.10|MYH3|MYH3|Confirmed DD Gene|Monoallelic|Uncertain|distal arthrogryposis type 2B (DA2B)|11339|601680|18695058 ;16642020|HP:0000006 ;HP:0000156 ;HP:0000160 ;HP:0000303 ;HP:0000325 ;HP:0000343 ;HP:0000347 ;HP:0000431 ;HP:0000465 ;HP:0000494 ;HP:0000598 ;HP:0001193 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0001848 ;HP:0002650 ;HP:0003049 ;HP:0004322 ;HP:0005272 ;HP:0005684 ;HP:0006109 ;HP:0100490
chr17|10583654|10601692|ENSG00000133028.6|ENSG00000133028.6|SCO1|SCO1|Confirmed DD Gene|Biallelic|Loss of function|mitochondrial complex IV deficiency (MT-C4D)|10505|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr17|12895708|12921504|ENSG00000006744.14|ENSG00000006744.14|ELAC2|ELAC2|Confirmed DD Gene|Biallelic|Loss of function|Infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency|13652|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr17|13972813|14111994|ENSG00000006695.6|ENSG00000006695.6|COX10|COX10|Confirmed DD Gene|Biallelic|Uncertain|mitochondrial complex IV deficiency (MT-C4D)|11245|220110|10767350 ;18499082 ;11013136 ;10545952 ;10647889|HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr17|13972813|14111994|ENSG00000006695.6|ENSG00000006695.6|COX10|COX10|Confirmed DD Gene|Biallelic|Uncertain|Leigh syndrome (LS)|11300|256000|12928484 ;15455402 ;15863660 ;20818383 ;19107570 ;10944442 ;17604671 ;17275378 ;22499348 ;10746566 ;11317352 ;15214016 ;10647889 ;9837813 ;9843204|HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr17|15902694|15948329|ENSG00000011295.11|ENSG00000011295.11|TTC19|TTC19|Confirmed DD Gene|Biallelic|Loss of function|mitochondrial complex III deficiency|11167|124000||HP:0000007 ;HP:0000365 ;HP:0000510 ;HP:0000518 ;HP:0000712 ;HP:0000716 ;HP:0000738 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001396 ;HP:0001410 ;HP:0001414 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001942 ;HP:0001943 ;HP:0001970 ;HP:0002059 ;HP:0002151 ;HP:0002299 ;HP:0002353 ;HP:0002910 ;HP:0003128 ;HP:0003200 ;HP:0003201 ;HP:0003256 ;HP:0003355 ;HP:0003546 ;HP:0003593 ;HP:0004298 ;HP:0006558 ;HP:0006789 ;HP:0008872
chr17|16120505|16252115|ENSG00000108474.12|ENSG00000108474.12|PIGL|PIGL|Confirmed DD Gene|Biallelic|Loss of function|ZUNICH NEUROECTODERMAL SYNDROME|11180|280000|22444671|HP:0000007 ;HP:0000074 ;HP:0000081 ;HP:0000126 ;HP:0000154 ;HP:0000175 ;HP:0000179 ;HP:0000248 ;HP:0000286 ;HP:0000316 ;HP:0000322 ;HP:0000396 ;HP:0000405 ;HP:0000431 ;HP:0000465 ;HP:0000480 ;HP:0000687 ;HP:0000972 ;HP:0001176 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001520 ;HP:0001629 ;HP:0001636 ;HP:0001669 ;HP:0001833 ;HP:0002007 ;HP:0002059 ;HP:0002136 ;HP:0002213 ;HP:0002557 ;HP:0002562 ;HP:0004209 ;HP:0004969 ;HP:0005280 ;HP:0006721 ;HP:0008070 ;HP:0008760 ;HP:0009473 ;HP:0011220
chr17|16832849|16875432|ENSG00000240505.4|ENSG00000240505.4|TNFRSF13B|TNFRSF13B|Possible DD Gene|Both|Loss of function|Immunodeficiency, common variable, 2 |10776|240500||HP:0000006 ;HP:0000007 ;HP:0000403 ;HP:0000509 ;HP:0001287 ;HP:0001744 ;HP:0002014 ;HP:0002110 ;HP:0002240 ;HP:0002664 ;HP:0002665 ;HP:0002716 ;HP:0002718 ;HP:0002720 ;HP:0002837 ;HP:0002850 ;HP:0002960 ;HP:0004315 ;HP:0005435 ;HP:0006532 ;HP:0011108
chr17|17584787|17714767|ENSG00000108557.13|ENSG00000108557.13|RAI1|RAI1|Confirmed DD Gene|Monoallelic|Loss of function|Smith-Magenis syndrome (SMS)|10494|182290||HP:0000006 ;HP:0000079 ;HP:0000164 ;HP:0000202 ;HP:0000220 ;HP:0000248 ;HP:0000272 ;HP:0000283 ;HP:0000303 ;HP:0000356 ;HP:0000365 ;HP:0000431 ;HP:0000490 ;HP:0000541 ;HP:0000664 ;HP:0000733 ;HP:0000742 ;HP:0000750 ;HP:0000752 ;HP:0000792 ;HP:0000820 ;HP:0001156 ;HP:0001169 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001265 ;HP:0001284 ;HP:0001290 ;HP:0001609 ;HP:0001763 ;HP:0002019 ;HP:0002119 ;HP:0002155 ;HP:0002353 ;HP:0002360 ;HP:0002564 ;HP:0002650 ;HP:0002715 ;HP:0002973 ;HP:0003124 ;HP:0003745 ;HP:0004279 ;HP:0004322 ;HP:0005607 ;HP:0007328 ;HP:0008609 ;HP:0010780 ;HP:0010803 ;HP:0012168
chr17|18012020|18083116|ENSG00000091536.12|ENSG00000091536.12|MYO15A|MYO15A|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 3|11502|600316|17853461 ;17851452 ;11735029 ;17546645 ;9603736|HP:0000007 ;HP:0011476
chr17|19551449|19580911|ENSG00000072210.14|ENSG00000072210.14|ALDH3A2|ALDH3A2|Confirmed DD Gene|Biallelic|Loss of function|Sjoegren-Larsson syndrome (SLS)|10323|270200|10792573 ;8528251 ;10577908 ;9254849 ;9250352|HP:0000007 ;HP:0000608 ;HP:0000613 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0002942 ;HP:0004322 ;HP:0006297 ;HP:0007305 ;HP:0007727 ;HP:0008064
chr17|26721661|26734215|ENSG00000076351.8|ENSG00000076351.8|SLC46A1|SLC46A1|Confirmed DD Gene|Biallelic|Loss of function|hereditary folate malabsorption (HFM)|10473|229050|20795774 ;11807405 ;11804211 ;18559978 ;21333572 ;17446347|HP:0000007 ;HP:0000155 ;HP:0000737 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001508 ;HP:0001873 ;HP:0001875 ;HP:0001882 ;HP:0002014 ;HP:0002024 ;HP:0002135 ;HP:0002305 ;HP:0002719 ;HP:0002719 ;HP:0003593 ;HP:0004851 ;HP:0008872 ;HP:0009830 ;HP:0100660
chr17|26833261|26865914|ENSG00000109101.3|ENSG00000109101.3|FOXN1|FOXN1|Confirmed DD Gene|Biallelic|Loss of function|Alopecia and T-Cell Immunodeficiency|12265|601705|8911612|HP:0000007 ;HP:0001596 ;HP:0001597 ;HP:0001939 ;HP:0005352
chr17|27052915|27070473|ENSG00000160602.9|ENSG00000160602.9|NEK8|NEK8|Probable DD gene|Biallelic|All missense/in frame|Nephronophthisis 9	|12742|613824|18199800|
chr17|27052915|27070473|ENSG00000160602.9|ENSG00000160602.9|NEK8|NEK8|Probable DD gene|Biallelic|Loss of function|Renal-hepatic-pancreatic dysplasia 2	|13747|615415|23418306|
chr17|27573881|27581512|ENSG00000108255.3|ENSG00000108255.3|CRYBA1|CRYBA1|Confirmed DD Gene|Monoallelic|Loss of function|cataract congenital zonular with sutural opacities (CCZS)|10273|600881|14598164; 14598164|HP:0000006 ;HP:0000519 ;HP:0008031
chr17|29295803|29326929|ENSG00000181481.9|ENSG00000181481.9|RNF135|RNF135|Confirmed DD Gene|Monoallelic|Loss of function|Macrocephaly, macrosomia, facial dysmorphism syndrome|10804|614192|17632510|
chr17|29421945|29709134|ENSG00000196712.12|ENSG00000196712.12|NF1|NF1|Confirmed DD Gene|Monoallelic|Loss of function|neurofibromatosis type 1 (NF1)|10459|162200|15948193 ;13680360 ;10677298 ;10712197 ;15520408 ;9668168 ;1568247 ;1783401 ;12438263 ;11258625 ;7633431 ;8664912 ;1937470 ;19449407 ;12483293 ;9003501 ;1302608 ;1719426 ;15523642 ;15948193|HP:0000006 ;HP:0000238 ;HP:0000256 ;HP:0000316 ;HP:0000501 ;HP:0000822 ;HP:0000957 ;HP:0000997 ;HP:0001250 ;HP:0001256 ;HP:0001328 ;HP:0001548 ;HP:0001920 ;HP:0002410 ;HP:0002414 ;HP:0002521 ;HP:0002650 ;HP:0002666 ;HP:0002857 ;HP:0002858 ;HP:0002859 ;HP:0002897 ;HP:0004322 ;HP:0009592 ;HP:0009732 ;HP:0009734 ;HP:0009735 ;HP:0009736 ;HP:0009737 ;HP:0100697
chr17|29421945|29709134|ENSG00000196712.12|ENSG00000196712.12|NF1|NF1|Confirmed DD Gene|Monoallelic|Loss of function|Watson syndrome (WS)|10597|193520|8317503 ;1302608|HP:0000006 ;HP:0000997 ;HP:0001067 ;HP:0001626 ;HP:0004322 ;HP:0004482 ;HP:0007565 ;HP:0009737
chr17|29421945|29709134|ENSG00000196712.12|ENSG00000196712.12|NF1|NF1|Confirmed DD Gene|Monoallelic|Loss of function|familial spinal neurofibromatosis (FSNF)|10598|162210|9529361 ;11704931 ;1745350|HP:0000006 ;HP:0000957 ;HP:0001480 ;HP:0002385 ;HP:0006851 ;HP:0007340 ;HP:0009737 ;HP:0010302
chr17|29421945|29709134|ENSG00000196712.12|ENSG00000196712.12|NF1|NF1|Confirmed DD Gene|Monoallelic|Loss of function|neurofibromatosis-Noonan syndrome (NFNS)|10599|601321|12707950 ;19845691|HP:0000006 ;HP:0000028 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000316 ;HP:0000358 ;HP:0000369 ;HP:0000465 ;HP:0000470 ;HP:0000494 ;HP:0000508 ;HP:0000750 ;HP:0000915 ;HP:0000917 ;HP:0000957 ;HP:0000997 ;HP:0001067 ;HP:0001324 ;HP:0001328 ;HP:0001642 ;HP:0001684 ;HP:0002162 ;HP:0002650 ;HP:0002967 ;HP:0004322 ;HP:0005272 ;HP:0009734 ;HP:0009737
chr17|33901814|33905882|ENSG00000108733.5|ENSG00000108733.5|PEX12|PEX12|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 3 (PBD-CG3)|10858|601758||
chr17|33901814|33905882|ENSG00000108733.5|ENSG00000108733.5|PEX12|PEX12|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10859|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr17|36046435|36105237|ENSG00000108753.8|ENSG00000108753.8|HNF1B|HNF1B|Confirmed DD Gene|Monoallelic|Loss of function|renal cysts and diabetes syndrome (RCAD)|10411|137920|15068978 ;11085914 ;10720943 ;12675839 ;17440011 ;9398836 ;11317673 ;11562418 ;10484768 ;15181075|HP:0000006 ;HP:0000013 ;HP:0000047 ;HP:0000074 ;HP:0000089 ;HP:0000093 ;HP:0000107 ;HP:0000122 ;HP:0000787 ;HP:0000792 ;HP:0000813 ;HP:0000833 ;HP:0001080 ;HP:0001738 ;HP:0001997 ;HP:0002120 ;HP:0002594 ;HP:0002910 ;HP:0003076 ;HP:0003259 ;HP:0003674 ;HP:0003774 ;HP:0003812 ;HP:0004379 ;HP:0004904 ;HP:0005563 ;HP:0100611
chr17|36481413|36499730|ENSG00000188888.7|ENSG00000188888.7|GPR179|GPR179|Confirmed DD Gene|Biallelic|Loss of function|Autosomal-Recessive Complete Congenital Stationary Night Blindness|10701|||
chr17|37827375|37853050|ENSG00000161395.8|ENSG00000161395.8|PGAP3|PGAP3|Confirmed DD Gene|Biallelic|Loss of function|Hyperphosphatasia with mental retardation syndrome 4|13728|615716|24439110|
chr17|38214543|38250120|ENSG00000126351.8|ENSG00000126351.8|THRA|THRA|Confirmed DD Gene|Monoallelic|Loss of function|Hypothyroidism, congenital, nongoitrous, 6|10825|614450|22168587 ;22494134|HP:0000006 ;HP:0000158 ;HP:0000684 ;HP:0000851 ;HP:0000958 ;HP:0001374 ;HP:0001510 ;HP:0001539 ;HP:0002019 ;HP:0002329 ;HP:0002750 ;HP:0004482
chr17|38443885|38459171|ENSG00000094804.5|ENSG00000094804.5|CDC6|CDC6|Confirmed DD Gene|Biallelic|Loss of function|Meier-Gorlin syndrome 5|10684|613805|11477602|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000252 ;HP:0000325 ;HP:0000327 ;HP:0000343 ;HP:0000347 ;HP:0000369 ;HP:0000385 ;HP:0001270 ;HP:0001508 ;HP:0001511 ;HP:0002020 ;HP:0002750 ;HP:0003042 ;HP:0003090 ;HP:0003100 ;HP:0003561 ;HP:0005487 ;HP:0006361 ;HP:0006443 ;HP:0008551 ;HP:0011968
chr17|38781214|38804760|ENSG00000073584.14|ENSG00000073584.14|SMARCE1|SMARCE1|Probable DD gene|Monoallelic|All missense/in frame|Coffin Siris|10223|135900|22426308|HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000086 ;HP:0000089 ;HP:0000126 ;HP:0000151 ;HP:0000154 ;HP:0000156 ;HP:0000175 ;HP:0000179 ;HP:0000252 ;HP:0000280 ;HP:0000365 ;HP:0000384 ;HP:0000453 ;HP:0000455 ;HP:0000483 ;HP:0000486 ;HP:0000508 ;HP:0000527 ;HP:0000545 ;HP:0000574 ;HP:0000601 ;HP:0000639 ;HP:0000684 ;HP:0000718 ;HP:0000729 ;HP:0000776 ;HP:0000879 ;HP:0000954 ;HP:0000960 ;HP:0000965 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001305 ;HP:0001338 ;HP:0001388 ;HP:0001511 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001643 ;HP:0002079 ;HP:0002205 ;HP:0002209 ;HP:0002219 ;HP:0002566 ;HP:0002576 ;HP:0002588 ;HP:0002592 ;HP:0002650 ;HP:0002673 ;HP:0002750 ;HP:0002808 ;HP:0003083 ;HP:0003298 ;HP:0004227 ;HP:0004322 ;HP:0005280 ;HP:0006498 ;HP:0006863 ;HP:0008398 ;HP:0008872 ;HP:0008897 ;HP:0009747 ;HP:0100391
chr17|40688190|40696467|ENSG00000108784.5|ENSG00000108784.5|NAGLU|NAGLU|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 3B (MPS3B)|10841|252920|9832037 ;21937992 ;12202988 ;10094189 ;11068184 ;8650226|HP:0000007 ;HP:0000250 ;HP:0000280 ;HP:0000365 ;HP:0000664 ;HP:0000718 ;HP:0000752 ;HP:0000900 ;HP:0000943 ;HP:0001007 ;HP:0001249 ;HP:0001250 ;HP:0001387 ;HP:0001640 ;HP:0001670 ;HP:0001744 ;HP:0002014 ;HP:0002159 ;HP:0002208 ;HP:0002240 ;HP:0002344 ;HP:0002360 ;HP:0002788 ;HP:0003309 ;HP:0003621
chr17|40713485|40718295|ENSG00000068120.10|ENSG00000068120.10|COASY|COASY|Confirmed DD Gene|Biallelic|Loss of function|Neurodegeneration with Brain Iron Accumulation|13686||24360804 |
chr17|41196312|41277500|ENSG00000012048.15|ENSG00000012048.15|BRCA1|BRCA1|Probable DD gene|Biallelic|Loss of function|Intellectual disability |13679||12624153|
chr17|41717756|41739322|ENSG00000005102.8|ENSG00000005102.8|MEOX1|MEOX1|Probable DD gene|Biallelic|Loss of function|Klippel-Feil Anomaly|13504|118100||HP:0000006 ;HP:0000122 ;HP:0000175 ;HP:0000324 ;HP:0000407 ;HP:0000410 ;HP:0000465 ;HP:0000466 ;HP:0000470 ;HP:0000772 ;HP:0000912 ;HP:0001335 ;HP:0001425 ;HP:0002162 ;HP:0002564 ;HP:0002650 ;HP:0002813 ;HP:0003828 ;HP:0004602 ;HP:0005640 ;HP:0005988 ;HP:0007291
chr17|42081914|42086431|ENSG00000161653.6|ENSG00000161653.6|NAGS|NAGS|Confirmed DD Gene|Biallelic|Loss of function|N-Acetylglutamate Synthase Deficiency|12710|237310|12594532 ;12754705; 12594532|HP:0000007 ;HP:0000718 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001289 ;HP:0001508 ;HP:0001987 ;HP:0002013 ;HP:0002098 ;HP:0100543
chr17|42325753|42345509|ENSG00000004939.9|ENSG00000004939.9|SLC4A1|SLC4A1|Both DD and IF|Biallelic|All missense/in frame|Renal tubular acidosis, distal, AR|10153|611590||HP:0000007 ;HP:0000121 ;HP:0001508 ;HP:0001942 ;HP:0002748 ;HP:0008341
chr17|42325753|42345509|ENSG00000004939.9|ENSG00000004939.9|SLC4A1|SLC4A1|Both DD and IF|Monoallelic|All missense/in frame|Renal tubular acidosis, distal, AD|10166|179800||HP:0000006 ;HP:0000121 ;HP:0001947 ;HP:0002749 ;HP:0002756 ;HP:0002901 ;HP:0003768 ;HP:0008153 ;HP:0008897
chr17|42927311|42977030|ENSG00000108883.8|ENSG00000108883.8|EFTUD2|EFTUD2|Confirmed DD Gene|Monoallelic|Loss of function|MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM|10704|610536|22541558 ;23188108 ;16760738 ;22305528 ;19334086|HP:0000006 ;HP:0000007 ;HP:0000175 ;HP:0000243 ;HP:0000252 ;HP:0000272 ;HP:0000286 ;HP:0000347 ;HP:0000369 ;HP:0000384 ;HP:0000396 ;HP:0000405 ;HP:0000413 ;HP:0000453 ;HP:0000463 ;HP:0000494 ;HP:0000506 ;HP:0000582 ;HP:0000750 ;HP:0001177 ;HP:0001238 ;HP:0001250 ;HP:0001263 ;HP:0001629 ;HP:0001631 ;HP:0002002 ;HP:0002032 ;HP:0002880 ;HP:0003196 ;HP:0004322 ;HP:0005321 ;HP:0008551 ;HP:0008872 ;HP:0009623
chr17|42976510|42982758|ENSG00000167131.12|ENSG00000167131.12|CCDC103|CCDC103|Confirmed DD Gene|Biallelic|Loss of function|Primary ciliary dyskinesia|13371|614679|22581229|HP:0000007 ;HP:0001696 ;HP:0002110 ;HP:0002205 ;HP:0002257 ;HP:0003577 ;HP:0005938 ;HP:0011109 ;HP:0012265
chr17|42982376|42994305|ENSG00000131095.7|ENSG00000131095.7|GFAP|GFAP|Confirmed DD Gene|Monoallelic|Dominant negative|Alexander Disease|10266|203450|14557587 ;11138011 ;12447932 ;11567214 ;12034796 ;12975300|HP:0000006 ;HP:0000238 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0002376 ;HP:0002483 ;HP:0002922 ;HP:0003593 ;HP:0004481 ;HP:0007162
chr17|44107282|44302733|ENSG00000120071.8|ENSG00000120071.8|KANSL1|KANSL1|Confirmed DD Gene|Monoallelic|Loss of function|Chromosome 17q21.31 microdeletion syndrome	|13368|610443|22544363 ;22544367|HP:0000006 ;HP:0000028 ;HP:0000076 ;HP:0000079 ;HP:0000126 ;HP:0000164 ;HP:0000175 ;HP:0000189 ;HP:0000194 ;HP:0000204 ;HP:0000218 ;HP:0000232 ;HP:0000252 ;HP:0000276 ;HP:0000286 ;HP:0000337 ;HP:0000348 ;HP:0000396 ;HP:0000400 ;HP:0000414 ;HP:0000426 ;HP:0000447 ;HP:0000486 ;HP:0000508 ;HP:0000518 ;HP:0000540 ;HP:0000581 ;HP:0000582 ;HP:0000601 ;HP:0000687 ;HP:0000750 ;HP:0000767 ;HP:0000958 ;HP:0000960 ;HP:0000964 ;HP:0001166 ;HP:0001212 ;HP:0001238 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001290 ;HP:0001382 ;HP:0001385 ;HP:0001466 ;HP:0001508 ;HP:0001511 ;HP:0001518 ;HP:0001611 ;HP:0001629 ;HP:0001631 ;HP:0001642 ;HP:0001647 ;HP:0001724 ;HP:0002021 ;HP:0002119 ;HP:0002465 ;HP:0002564 ;HP:0002650 ;HP:0002705 ;HP:0002808 ;HP:0002827 ;HP:0002948 ;HP:0003302 ;HP:0003745 ;HP:0003828 ;HP:0004283 ;HP:0004322 ;HP:0005487 ;HP:0005656 ;HP:0006006 ;HP:0006610 ;HP:0008872 ;HP:0009887 ;HP:0010719 ;HP:0011822 ;HP:0100024
chr17|44839872|44910520|ENSG00000108379.5|ENSG00000108379.5|WNT3|WNT3|Confirmed DD Gene|Biallelic|Loss of function|Tetra-Amelia Syndrome|11102|276069||
chr17|46605888|46608359|ENSG00000120094.6|ENSG00000120094.6|HOXB1|HOXB1|Probable DD gene|Biallelic|All missense/in frame|Facial paresis, hereditary congenital, 3	614744|13394|614744|22770981|HP:0000007 ;HP:0000319 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000463 ;HP:0000565 ;HP:0003680 ;HP:0010628 ;HP:0011800
chr17|48133332|48167845|ENSG00000005884.13|ENSG00000005884.13|ITGA3|ITGA3|Confirmed DD Gene|Biallelic|Loss of function|Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|13405|614748|22512483|HP:0000097 ;HP:0000100 ;HP:0002098 ;HP:0002205 ;HP:0006530 ;HP:0008066 ;HP:0008404
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Uncertain|Caffey Disease|12024|114000|15864348|HP:0000006 ;HP:0001945 ;HP:0002982 ;HP:0004490 ;HP:0005731 ;HP:0006465
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|COL1A1/2-Related Osteogenesis Imperfecta|12025|166210|3108247 ;3403550 ;2500431 ;2298750 ;12538651 ;1864604 ;2309707 ;8097422 ;8950680 ;1613761 ;2913053 ;7881420 ;8100209 ;8364588 ;2037280 ;7816518 ;2794057 ;21834035 ;1874719 ;3667599 ;2339700|HP:0000006 ;HP:0000239 ;HP:0000444 ;HP:0000592 ;HP:0000923 ;HP:0000926 ;HP:0000963 ;HP:0001518 ;HP:0001622 ;HP:0001635 ;HP:0001790 ;HP:0002093 ;HP:0002644 ;HP:0002645 ;HP:0002757 ;HP:0002982 ;HP:0005474 ;HP:0005622 ;HP:0005855 ;HP:0006367 ;HP:0008873 ;HP:0010444
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|Ehlers-Danlos Syndrome Type VIIA|12026|130060|9295084 ;3082886 ;18409203|HP:0000006 ;HP:0000272 ;HP:0000938 ;HP:0000974 ;HP:0000977 ;HP:0000978 ;HP:0001058 ;HP:0001075 ;HP:0001252 ;HP:0001388 ;HP:0001623 ;HP:0002194 ;HP:0002650 ;HP:0002659 ;HP:0002808 ;HP:0003088 ;HP:0003502 ;HP:0008780
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related|12028|130060|9295084 ;3082886 ;18409203|HP:0000006 ;HP:0000272 ;HP:0000938 ;HP:0000974 ;HP:0000977 ;HP:0000978 ;HP:0001058 ;HP:0001075 ;HP:0001252 ;HP:0001388 ;HP:0001623 ;HP:0002194 ;HP:0002650 ;HP:0002659 ;HP:0002808 ;HP:0003088 ;HP:0003502 ;HP:0008780
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|Osteogenesis Imperfecta Type I|12029|166200|15728585 ;15024692 ;9067755 ;8757037 ;1634225 ;1737847 ;2794057 ;8408653 ;1988452 ;2295701|HP:0000006 ;HP:0000362 ;HP:0000365 ;HP:0000592 ;HP:0000703 ;HP:0000938 ;HP:0000963 ;HP:0000978 ;HP:0001382 ;HP:0001507 ;HP:0001634 ;HP:0001724 ;HP:0002645 ;HP:0002659 ;HP:0002757 ;HP:0002980 ;HP:0003321
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|Osteogenesis Imperfecta Type IIA|12030|166210|3108247 ;3403550 ;2500431 ;2298750 ;12538651 ;1864604 ;2309707 ;8097422 ;8950680 ;1613761 ;2913053 ;7881420 ;8100209 ;8364588 ;2037280 ;7816518 ;2794057 ;21834035 ;1874719 ;3667599 ;2339700|HP:0000006 ;HP:0000239 ;HP:0000444 ;HP:0000592 ;HP:0000923 ;HP:0000926 ;HP:0000963 ;HP:0001518 ;HP:0001622 ;HP:0001635 ;HP:0001790 ;HP:0002093 ;HP:0002644 ;HP:0002645 ;HP:0002757 ;HP:0002982 ;HP:0005474 ;HP:0005622 ;HP:0005855 ;HP:0006367 ;HP:0008873 ;HP:0010444
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|Osteogenesis Imperfecta Type III|12031|259420|11286507 ;8456809 ;7789952 ;1770532 ;8786074 ;8723681 ;2511192 ;2037280 ;2794057 ;8910493|HP:0000006 ;HP:0000007 ;HP:0000260 ;HP:0000325 ;HP:0000347 ;HP:0000365 ;HP:0000592 ;HP:0000703 ;HP:0000707 ;HP:0000765 ;HP:0002007 ;HP:0002092 ;HP:0002645 ;HP:0002650 ;HP:0002691 ;HP:0002757 ;HP:0002808 ;HP:0002982 ;HP:0003023 ;HP:0003100 ;HP:0003179 ;HP:0004586 ;HP:0005474 ;HP:0005855 ;HP:0005897 ;HP:0008921
chr17|48260650|48278993|ENSG00000108821.9|ENSG00000108821.9|COL1A1|COL1A1|Confirmed DD Gene|Monoallelic|Dominant negative|Ehlers-Danlos Syndrome Type VIIA|13513|319158||
chr17|48638429|48704835|ENSG00000006283.13|ENSG00000006283.13|CACNA1G|CACNA1G|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10009||21937992|
chr17|54671060|54672951|ENSG00000183691.4|ENSG00000183691.4|NOG|NOG|Confirmed DD Gene|Monoallelic|Loss of function|symphalangism proximal syndrome (SYM1)|10463|185800||HP:0000006 ;HP:0000381 ;HP:0000405 ;HP:0001204 ;HP:0005880 ;HP:0006152 ;HP:0008368 ;HP:0009702 ;HP:0009843 ;HP:0010047 ;HP:0010194
chr17|54671060|54672951|ENSG00000183691.4|ENSG00000183691.4|NOG|NOG|Confirmed DD Gene|Monoallelic|Loss of function|multiple synostoses syndrome type 1 (SYNS1)|10600|186500|16532400 ;3667255 ;20503332 ;11846737 ;15770128|HP:0000006 ;HP:0000215 ;HP:0000275 ;HP:0000322 ;HP:0000381 ;HP:0000430 ;HP:0000486 ;HP:0000767 ;HP:0000879 ;HP:0000920 ;HP:0000954 ;HP:0001032 ;HP:0001773 ;HP:0002515 ;HP:0002967 ;HP:0003083 ;HP:0003416 ;HP:0003468 ;HP:0004691 ;HP:0005104 ;HP:0005792 ;HP:0005807 ;HP:0006152 ;HP:0006187 ;HP:0006385 ;HP:0008368 ;HP:0008384 ;HP:0008460 ;HP:0008607 ;HP:0009466 ;HP:0009702 ;HP:0009843 ;HP:0010109 ;HP:0010554 ;HP:0010624 ;HP:0200062
chr17|54671060|54672951|ENSG00000183691.4|ENSG00000183691.4|NOG|NOG|Confirmed DD Gene|Monoallelic|Uncertain|tarsal-carpal coalition syndrome (TCC)|11345|186570|11545688 ;4019538|HP:0000006 ;HP:0001204 ;HP:0002967 ;HP:0003041 ;HP:0006147 ;HP:0006152 ;HP:0008368 ;HP:0009381 ;HP:0009466 ;HP:0009702 ;HP:0010034
chr17|54671060|54672951|ENSG00000183691.4|ENSG00000183691.4|NOG|NOG|Confirmed DD Gene|Monoallelic|Uncertain|stapes ankylosis with broad thumb and toes (SABTS)|11346|184460|12089654 ;10069712|HP:0000006 ;HP:0000381 ;HP:0000405 ;HP:0000430 ;HP:0000466 ;HP:0000540 ;HP:0001770 ;HP:0002949 ;HP:0003189 ;HP:0007943 ;HP:0009177 ;HP:0009765 ;HP:0009882 ;HP:0010055 ;HP:0011304
chr17|54671060|54672951|ENSG00000183691.4|ENSG00000183691.4|NOG|NOG|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly type B2 (BDB2)|11347|611377|17668388|HP:0000006 ;HP:0000407 ;HP:0000540 ;HP:0001204 ;HP:0006109 ;HP:0006152 ;HP:0008368 ;HP:0008386 ;HP:0009623 ;HP:0009702 ;HP:0009835 ;HP:0009843 ;HP:0010034 ;HP:0010185 ;HP:0010194 ;HP:0010554 ;HP:0010621
chr17|56282803|56296966|ENSG00000011143.12|ENSG00000011143.12|MKS1|MKS1|Confirmed DD Gene|Biallelic|Loss of function|Meckel syndrome type 1 (MKS1)|10448|249000|17377820 ;16415886|HP:0000007 ;HP:0000028 ;HP:0000033 ;HP:0000061 ;HP:0000069 ;HP:0000104 ;HP:0000113 ;HP:0000130 ;HP:0000154 ;HP:0000175 ;HP:0000180 ;HP:0000204 ;HP:0000238 ;HP:0000252 ;HP:0000316 ;HP:0000340 ;HP:0000347 ;HP:0000369 ;HP:0000465 ;HP:0000470 ;HP:0000568 ;HP:0000601 ;HP:0000612 ;HP:0000695 ;HP:0000835 ;HP:0001159 ;HP:0001162 ;HP:0001195 ;HP:0001274 ;HP:0001305 ;HP:0001321 ;HP:0001341 ;HP:0001408 ;HP:0001511 ;HP:0001539 ;HP:0001562 ;HP:0001600 ;HP:0001623 ;HP:0001643 ;HP:0001671 ;HP:0001680 ;HP:0001744 ;HP:0001746 ;HP:0001747 ;HP:0001829 ;HP:0001883 ;HP:0002023 ;HP:0002085 ;HP:0002089 ;HP:0002308 ;HP:0002323 ;HP:0002566 ;HP:0003241 ;HP:0004639 ;HP:0005343 ;HP:0006267 ;HP:0006487 ;HP:0006872 ;HP:0009466
chr17|56282803|56296966|ENSG00000011143.12|ENSG00000011143.12|MKS1|MKS1|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 13 (BBS13)|10594|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr17|56769934|56811703|ENSG00000108384.10|ENSG00000108384.10|RAD51C|RAD51C|Probable DD gene|Biallelic|All missense/in frame|Fanconi anemia, complementation group 0|10124|613390|20400963|HP:0000007 ;HP:0000028 ;HP:0000126 ;HP:0002023 ;HP:0002564 ;HP:0002984 ;HP:0003241 ;HP:0003774 ;HP:0004322 ;HP:0009777 ;HP:0009778
chr17|57059999|57184282|ENSG00000108395.9|ENSG00000108395.9|TRIM37|TRIM37|Confirmed DD Gene|Biallelic|Loss of function|Mulibrey Nanism|11093|213300||HP:0000007 ;HP:0000107 ;HP:0000158 ;HP:0000256 ;HP:0000286 ;HP:0000369 ;HP:0000463 ;HP:0000508 ;HP:0000556 ;HP:0000567 ;HP:0000570 ;HP:0000588 ;HP:0000657 ;HP:0000718 ;HP:0000742 ;HP:0000752 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001320 ;HP:0001395 ;HP:0001760 ;HP:0002195 ;HP:0002335 ;HP:0002365 ;HP:0002419 ;HP:0002508 ;HP:0002553 ;HP:0002790 ;HP:0002871 ;HP:0002876 ;HP:0003812 ;HP:0007271 ;HP:0007772 ;HP:0007973 ;HP:0010808 ;HP:0010828 ;HP:0011220 ;HP:0011933 ;HP:0100951 ;HP:0200096
chr17|59529765|59562471|ENSG00000121075.5|ENSG00000121075.5|TBX4|TBX4|Confirmed DD Gene|Monoallelic|Loss of function|Small patella syndrome|10826|147891|11303519 ;15106123|HP:0000006 ;HP:0000156 ;HP:0000175 ;HP:0000347 ;HP:0001763 ;HP:0001852 ;HP:0002999 ;HP:0003065 ;HP:0003370 ;HP:0006443 ;HP:0008784 ;HP:0008801
chr17|59758627|59940882|ENSG00000136492.4|ENSG00000136492.4|BRIP1|BRIP1|Confirmed DD Gene|Biallelic|Loss of function|FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ|10643|609054|16116424|HP:0000007 ;HP:0000568 ;HP:0001263 ;HP:0001511 ;HP:0003221 ;HP:0005528 ;HP:0007565 ;HP:0008897 ;HP:0009778
chr17|61678231|61685725|ENSG00000136463.7|ENSG00000136463.7|TACO1|TACO1|Probable DD gene|Biallelic|Loss of function|LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY|10820|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr17|62015914|62050278|ENSG00000007314.7|ENSG00000007314.7|SCN4A|SCN4A|Confirmed DD Gene|Monoallelic|Activating|Hyperkalemic Periodic Paralysis Type 1|13035|170500|1659948 ;1659668 ;15596759; 1659948|HP:0000006 ;HP:0002486 ;HP:0003593 ;HP:0003752 ;HP:0007215
chr17|62015914|62050278|ENSG00000007314.7|ENSG00000007314.7|SCN4A|SCN4A|Confirmed DD Gene|Monoallelic|All missense/in frame|Hypokalemic Periodic Paralysis|13036|613345|10599760 ;16890191 ;11591859 ;10944223 ;10851391; 10599760|HP:0000006 ;HP:0002900 ;HP:0003198 ;HP:0003752 ;HP:0003812
chr17|62015914|62050278|ENSG00000007314.7|ENSG00000007314.7|SCN4A|SCN4A|Confirmed DD Gene|Monoallelic|All missense/in frame|Paramyotonia Congenita of Von Eulenburg|13040|168300|18203179 ;8580427 ;19015492 ;1338909 ;1310898 ;19015483 ;1316765 ;8388676 ;17998485 ;10369308; 1316765|HP:0000006 ;HP:0001319 ;HP:0001324 ;HP:0003326 ;HP:0003552 ;HP:0003593 ;HP:0003712 ;HP:0003812 ;HP:0005348 ;HP:0010548 ;HP:0011809 ;HP:0011968
chr17|66507921|66547460|ENSG00000108946.10|ENSG00000108946.10|PRKAR1A|PRKAR1A|Confirmed DD Gene|Monoallelic|Activating|Acrodysostosis|13552|101800|22464252 ;21651393 ;22464250; 21651393|HP:0000006 ;HP:0000028 ;HP:0000135 ;HP:0000238 ;HP:0000248 ;HP:0000286 ;HP:0000303 ;HP:0000316 ;HP:0000327 ;HP:0000365 ;HP:0000455 ;HP:0000463 ;HP:0000486 ;HP:0000635 ;HP:0000648 ;HP:0000668 ;HP:0000684 ;HP:0000689 ;HP:0000858 ;HP:0000995 ;HP:0001169 ;HP:0001249 ;HP:0001530 ;HP:0001847 ;HP:0002650 ;HP:0002773 ;HP:0003083 ;HP:0003165 ;HP:0003416 ;HP:0004279 ;HP:0004490 ;HP:0005280 ;HP:0005280 ;HP:0005616 ;HP:0005756 ;HP:0008450 ;HP:0008873 ;HP:0009803 ;HP:0010049 ;HP:0010230 ;HP:0010743
chr17|66531254|66597530|ENSG00000108950.7|ENSG00000108950.7|FAM20A|FAM20A|Possible DD Gene|Biallelic|Loss of function|Amelogenesis imperfecta and gingival fibromatosis syndrome |10767|614253||HP:0000007 ;HP:0000212
chr17|70117161|70122561|ENSG00000125398.5|ENSG00000125398.5|SOX9|SOX9|Confirmed DD Gene|Monoallelic|Cis-regulatory or promotor mutation|Pierre Robin Sequence|10228|||
chr17|70117161|70122561|ENSG00000125398.5|ENSG00000125398.5|SOX9|SOX9|Confirmed DD Gene|Monoallelic|Loss of function|Campomelic dysplasia|10941|114290|8894698 ;7990924 ;7485151 ;19449405 ;11754051 ;11076045 ;11323423 ;12783851 ;10951468 ;8001137|HP:0000006 ;HP:0000126 ;HP:0000175 ;HP:0000238 ;HP:0000256 ;HP:0000260 ;HP:0000274 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000365 ;HP:0000369 ;HP:0000581 ;HP:0000878 ;HP:0000882 ;HP:0000883 ;HP:0001252 ;HP:0001508 ;HP:0001561 ;HP:0001762 ;HP:0002098 ;HP:0002104 ;HP:0002564 ;HP:0002751 ;HP:0002786 ;HP:0002827 ;HP:0002866 ;HP:0003038 ;HP:0005035 ;HP:0005257 ;HP:0005280 ;HP:0006390 ;HP:0006628 ;HP:0008434 ;HP:0008477 ;HP:0008921 ;HP:0011910 ;HP:0012245
chr17|71189129|71204646|ENSG00000166685.7|ENSG00000166685.7|COG1|COG1|Confirmed DD Gene|Biallelic|Loss of function|COG1-CDG (CDG-IIg)|11017|300197||
chr17|73269073|73285591|ENSG00000125454.7|ENSG00000125454.7|SLC25A19|SLC25A19|Possible DD Gene|Biallelic|All missense/in frame|Amish Lethal Microcephaly|10204|216535||
chr17|73512141|73520820|ENSG00000182173.8|ENSG00000182173.8|TSEN54|TSEN54|Confirmed DD Gene|Biallelic|Loss of function|Pontocerebellar Hypoplasia Type 2 and Type 4|11094|316970||
chr17|73747675|73761792|ENSG00000108479.7|ENSG00000108479.7|GALK1|GALK1|Confirmed DD Gene|Biallelic|Loss of function|galactosemia II (GALCT2)|10279|230200|10521295 ;10790206 ;11231902 ;7670469|HP:0000007 ;HP:0000518 ;HP:0002904 ;HP:0006579 ;HP:0012023 ;HP:0012024
chr17|73937588|73975515|ENSG00000161533.7|ENSG00000161533.7|ACOX1|ACOX1|Confirmed DD Gene|Biallelic|Loss of function|adrenoleukodystrophy pseudoneonatal (Pseudo-NALD)|10320|264470|18536048 ;17458872 ;2894756 ;11815777 ;8279468|HP:0000007 ;HP:0000248 ;HP:0000316 ;HP:0000369 ;HP:0000431 ;HP:0000486 ;HP:0000547 ;HP:0000580 ;HP:0000639 ;HP:0000648 ;HP:0000654 ;HP:0000737 ;HP:0001250 ;HP:0001276 ;HP:0001319 ;HP:0001332 ;HP:0002007 ;HP:0002015 ;HP:0002240 ;HP:0002376 ;HP:0002415 ;HP:0002910 ;HP:0003186 ;HP:0003487 ;HP:0003593 ;HP:0005280 ;HP:0006555 ;HP:0006887 ;HP:0007305 ;HP:0008619 ;HP:0008763 ;HP:0010864 ;HP:0011344
chr17|78010435|78074412|ENSG00000141519.10|ENSG00000141519.10|CCDC40|CCDC40|Confirmed DD Gene|Biallelic|Loss of function|Ciliary dyskinesia, primary, 15|10689|613808|21131974|
chr17|78075355|78093678|ENSG00000171298.8|ENSG00000171298.8|GAA|GAA|Confirmed DD Gene|Biallelic|Loss of function|Glycogen Storage Disease Type II (Pompe Disease)|12284|232300|15668445 ;9529346 ;17616415 ;7881422 ;1898413 ;7881425 ;3865697 ;8834250 ;7945303 ;1652892|HP:0000007 ;HP:0000158 ;HP:0000365 ;HP:0001252 ;HP:0001284 ;HP:0001640 ;HP:0001716 ;HP:0001744 ;HP:0001945 ;HP:0002094 ;HP:0002205 ;HP:0002240 ;HP:0002747 ;HP:0003236 ;HP:0003701 ;HP:0003725 ;HP:0004944 ;HP:0005165 ;HP:0006597 ;HP:0011400
chr17|78109013|78120982|ENSG00000141543.5|ENSG00000141543.5|EIF4A3|EIF4A3|Confirmed DD Gene|Biallelic|5 or 3UTR mutation|Richieri-Costa-Pereira Syndrome|13691||24360810|
chr17|78143791|78183130|ENSG00000141527.12|ENSG00000141527.12|CARD14|CARD14|Confirmed DD Gene|Monoallelic|Loss of function|Pityriasis rubra pilaris|13393|173200|22703878|HP:0000006 ;HP:0000982 ;HP:0008392
chr17|78180515|78194722|ENSG00000181523.8|ENSG00000181523.8|SGSH|SGSH|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 3A (MPS3A)|10872|252900||HP:0000007 ;HP:0000250 ;HP:0000280 ;HP:0000365 ;HP:0000664 ;HP:0000752 ;HP:0000900 ;HP:0000943 ;HP:0001007 ;HP:0001249 ;HP:0001250 ;HP:0001387 ;HP:0001507 ;HP:0001670 ;HP:0001744 ;HP:0002014 ;HP:0002159 ;HP:0002208 ;HP:0002240 ;HP:0002360 ;HP:0002788 ;HP:0003309
chr17|79476997|79490873|ENSG00000184009.5|ENSG00000184009.5|ACTG1|ACTG1|Confirmed DD Gene|Monoallelic|All missense/in frame|Baraitser-Winter syndrome|10121|||
chr17|79617489|79630142|ENSG00000185527.7|ENSG00000185527.7|PDE6G|PDE6G|Confirmed DD Gene|Biallelic|Loss of function|Retinitis pigmentosa 57|10742|613582|20655036|HP:0000007 ;HP:0000543 ;HP:0007843 ;HP:0011505
chr17|79890260|79900288|ENSG00000183010.12|ENSG00000183010.12|PYCR1|PYCR1|Confirmed DD Gene|Biallelic|Loss of function|Cutis laxa, autosomal recessive, type IIB|10822|612940|11424136 ;19576563 ;16045708 ;18304158 ;18348262 ;19648921|HP:0000007 ;HP:0000238 ;HP:0000239 ;HP:0000252 ;HP:0000272 ;HP:0000316 ;HP:0000325 ;HP:0000412 ;HP:0000418 ;HP:0000490 ;HP:0000494 ;HP:0000592 ;HP:0000601 ;HP:0000938 ;HP:0001263 ;HP:0001274 ;HP:0001374 ;HP:0001382 ;HP:0001508 ;HP:0001511 ;HP:0001582 ;HP:0002007 ;HP:0002020 ;HP:0002650 ;HP:0006487 ;HP:0200061
chr17|80036214|80056208|ENSG00000169710.6|ENSG00000169710.6|FASN|FASN|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10019||21937992|
chr17|80572438|80606429|ENSG00000141580.11|ENSG00000141580.11|WDR45B|WDR45B|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10045||21937992|
chr17|80787311|80798454|ENSG00000141579.6|ENSG00000141579.6|ZNF750|ZNF750|Probable DD gene|Monoallelic|Loss of function|Seborrhea-like dermatitis with psoriasiform elements|10783|610227|16751772|HP:0000006 ;HP:0000962 ;HP:0001051
chr18|2655737|2805015|ENSG00000101596.10|ENSG00000101596.10|SMCHD1|SMCHD1|Possible DD Gene|Digenic|Loss of function|facioscapulohumeral muscular dystrophy type 2|13481|158901|23143600|
chr18|3411606|3458409|ENSG00000177426.16|ENSG00000177426.16|TGIF1|TGIF1|Confirmed DD Gene|Monoallelic|Loss of function|Holoprosencephaly|11092|142946||HP:0000006 ;HP:0000161 ;HP:0000437 ;HP:0000508 ;HP:0000601 ;HP:0002507 ;HP:0005273 ;HP:0005280 ;HP:0008501
chr18|6941743|7117813|ENSG00000101680.9|ENSG00000101680.9|LAMA1|LAMA1|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10028||21937992|
chr18|10666480|11148587|ENSG00000154864.7|ENSG00000154864.7|PIEZO2|PIEZO2|Confirmed DD Gene|Monoallelic|Loss of function|Arthrogryposis, distal, type 3|13444|114300|24726473|HP:0000006 ;HP:0000028 ;HP:0000176 ;HP:0000193 ;HP:0000286 ;HP:0000470 ;HP:0000508 ;HP:0000954 ;HP:0001193 ;HP:0001374 ;HP:0001547 ;HP:0001762 ;HP:0001836 ;HP:0002751 ;HP:0002938 ;HP:0003184 ;HP:0004322 ;HP:0006380 ;HP:0009698 ;HP:0009803 ;HP:0010554 ;HP:0200021
chr18|12328943|12377313|ENSG00000141385.5|ENSG00000141385.5|AFG3L2|AFG3L2|Both DD and IF|Monoallelic|Loss of function|Spinocerebellar ataxia 28|10810|610246||HP:0000006 ;HP:0000508 ;HP:0000514 ;HP:0000597 ;HP:0000640 ;HP:0000641 ;HP:0001257 ;HP:0001260 ;HP:0001272 ;HP:0001300 ;HP:0001332 ;HP:0002066 ;HP:0002070 ;HP:0002395 ;HP:0003487 ;HP:0003677
chr18|12328943|12377313|ENSG00000141385.5|ENSG00000141385.5|AFG3L2|AFG3L2|Both DD and IF|Biallelic|All missense/in frame|Ataxia, spastic, 5, autosomal recessive|10185|614487||HP:0000007 ;HP:0000508 ;HP:0000657 ;HP:0001260 ;HP:0001272 ;HP:0001310 ;HP:0001324 ;HP:0001332 ;HP:0001336 ;HP:0002015 ;HP:0002069 ;HP:0002075 ;HP:0002123 ;HP:0002313 ;HP:0003202 ;HP:0003593 ;HP:0003676 ;HP:0007141 ;HP:0012240
chr18|13882043|13915706|ENSG00000185231.4|ENSG00000185231.4|MC2R|MC2R|Confirmed DD Gene|Biallelic|Loss of function|Glucocorticoid Deficiency 1|12651|202200|18492762 ;8094489 ;18407210 ;12213892 ;8636348 ;8227361|HP:0000007 ;HP:0000098 ;HP:0000953 ;HP:0001250 ;HP:0001259 ;HP:0001508 ;HP:0001988 ;HP:0002719 ;HP:0003154 ;HP:0005616 ;HP:0008163
chr18|19749404|19782491|ENSG00000141448.4|ENSG00000141448.4|GATA6|GATA6|Confirmed DD Gene|Monoallelic|All missense/in frame|Atrial septal defect 9|10117|614475|20631719|HP:0000006 ;HP:0002092
chr18|19749404|19782491|ENSG00000141448.4|ENSG00000141448.4|GATA6|GATA6|Confirmed DD Gene|Monoallelic|All missense/in frame|Atrioventricular septal defect 5|10118|614474|20581743|HP:0000006 ;HP:0011623
chr18|19749404|19782491|ENSG00000141448.4|ENSG00000141448.4|GATA6|GATA6|Confirmed DD Gene|Monoallelic|Loss of function|Pancreatic agenesis, diaphragmatic hernia and congenital heart defects|10665|600001|22158542 ;8071961|HP:0000006 ;HP:0000023 ;HP:0000252 ;HP:0000819 ;HP:0001250 ;HP:0001263 ;HP:0001508 ;HP:0001511 ;HP:0001537 ;HP:0001636 ;HP:0001642 ;HP:0001643 ;HP:0001655 ;HP:0001660 ;HP:0001669 ;HP:0002566 ;HP:0002594 ;HP:0003074 ;HP:0003076 ;HP:0004388 ;HP:0005912 ;HP:0011611 ;HP:0011682
chr18|21086148|21166862|ENSG00000141458.8|ENSG00000141458.8|NPC1|NPC1|Confirmed DD Gene|Biallelic|Loss of function|Niemann-Pick disease, type C1	|13577|257220|12554680 ;9211849 ;9245994 ;10521297 ;11333381 ;11479732 ;11349231 ;10480349|HP:0000007 ;HP:0000511 ;HP:0000709 ;HP:0000726 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001744 ;HP:0001791 ;HP:0001982 ;HP:0002015 ;HP:0002185 ;HP:0002240 ;HP:0002371 ;HP:0002524 ;HP:0002529 ;HP:0003349 ;HP:0003464 ;HP:0003593 ;HP:0003640 ;HP:0003674 ;HP:0003812 ;HP:0003812 ;HP:0004333 ;HP:0006579 ;HP:0006583
chr18|24034874|24237365|ENSG00000134504.8|ENSG00000134504.8|KCTD1|KCTD1|Confirmed DD Gene|Monoallelic|Activating|Scalp-Ear-Nipple Syndrome|13527||23541344 |
chr18|28898052|28936992|ENSG00000134760.5|ENSG00000134760.5|DSG1|DSG1|Probable DD gene|Biallelic|Loss of function|severe dermatitis, multiple allergies and metabolic wasting|13640||23974871|
chr18|33709407|33757909|ENSG00000134759.9|ENSG00000134759.9|ELP2|ELP2|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10016||21937992|
chr18|42260138|42648475|ENSG00000152217.12|ENSG00000152217.12|SETBP1|SETBP1|Confirmed DD Gene|Monoallelic|Activating|Schinzel-Giedion midface retraction syndrome (SGMFS)|11277|269150|20436468|HP:0000006 ;HP:0000046 ;HP:0000047 ;HP:0000054 ;HP:0000059 ;HP:0000064 ;HP:0000071 ;HP:0000072 ;HP:0000126 ;HP:0000158 ;HP:0000272 ;HP:0000280 ;HP:0000316 ;HP:0000329 ;HP:0000340 ;HP:0000348 ;HP:0000369 ;HP:0000452 ;HP:0000463 ;HP:0000470 ;HP:0000586 ;HP:0000813 ;HP:0000879 ;HP:0000885 ;HP:0000890 ;HP:0000935 ;HP:0000954 ;HP:0000998 ;HP:0001162 ;HP:0001249 ;HP:0001250 ;HP:0001508 ;HP:0001631 ;HP:0001739 ;HP:0001762 ;HP:0001795 ;HP:0002059 ;HP:0002119 ;HP:0002179 ;HP:0002319 ;HP:0002521 ;HP:0002557 ;HP:0002645 ;HP:0002694 ;HP:0002884 ;HP:0002982 ;HP:0003196 ;HP:0004492 ;HP:0005280 ;HP:0005495 ;HP:0006387 ;HP:0006392 ;HP:0006657 ;HP:0008897 ;HP:0009104 ;HP:0009792 ;HP:0009882 ;HP:0010034 ;HP:0011220
chr18|42260138|42648475|ENSG00000152217.12|ENSG00000152217.12|SETBP1|SETBP1|Confirmed DD Gene|Monoallelic|Loss of function|Developmental and expressive language delay|13379|||
chr18|43427574|43547240|ENSG00000152223.8|ENSG00000152223.8|EPG5|EPG5|Confirmed DD Gene|Biallelic|Loss of function|IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM|13436|242840|23222957 ;3344762; 23222957|HP:0000007 ;HP:0000175 ;HP:0000204 ;HP:0000252 ;HP:0000316 ;HP:0000347 ;HP:0000369 ;HP:0000519 ;HP:0000639 ;HP:0000777 ;HP:0001022 ;HP:0001107 ;HP:0001250 ;HP:0001252 ;HP:0001270 ;HP:0001274 ;HP:0001320 ;HP:0001508 ;HP:0001510 ;HP:0001635 ;HP:0001644 ;HP:0001712 ;HP:0001941 ;HP:0002205 ;HP:0002533 ;HP:0002718 ;HP:0002721 ;HP:0002728 ;HP:0002841 ;HP:0002965 ;HP:0003198 ;HP:0003244 ;HP:0003577 ;HP:0004315 ;HP:0004429 ;HP:0005407 ;HP:0005419 ;HP:0007314 ;HP:0007894 ;HP:0008348 ;HP:0010636
chr18|44056935|44236996|ENSG00000167210.12|ENSG00000167210.12|LOXHD1|LOXHD1|Both DD and IF|Biallelic|Loss of function|deafness autosomal recessive type 77|10992|613079||HP:0000007 ;HP:0000365
chr18|44056935|44236996|ENSG00000167210.12|ENSG00000167210.12|LOXHD1|LOXHD1|Both DD and IF|Monoallelic|All missense/in frame|Dominant late-onset Fuchs corneal dystrophy|10221|||
chr18|45357922|45457515|ENSG00000175387.11|ENSG00000175387.11|SMAD2|SMAD2|Possible DD Gene|Monoallelic|Loss of function|Congenital heart disease|13670||23665959|
chr18|46570039|46987717|ENSG00000141627.9|ENSG00000141627.9|DYM|DYM|Confirmed DD Gene|Biallelic|Loss of function|Dyggve-Melchior-Clausen syndrome (DMC)|10374|223800|12491225 ;12554689 ;16097008|HP:0000007 ;HP:0000252 ;HP:0000280 ;HP:0000303 ;HP:0000470 ;HP:0000882 ;HP:0000884 ;HP:0000911 ;HP:0000920 ;HP:0000926 ;HP:0001169 ;HP:0001263 ;HP:0001498 ;HP:0001552 ;HP:0001769 ;HP:0002515 ;HP:0002650 ;HP:0002681 ;HP:0002684 ;HP:0002692 ;HP:0002857 ;HP:0002866 ;HP:0002938 ;HP:0002942 ;HP:0003180 ;HP:0003183 ;HP:0003311 ;HP:0003375 ;HP:0003521 ;HP:0004568 ;HP:0004997 ;HP:0006450 ;HP:0008786 ;HP:0008897 ;HP:0008905 ;HP:0009473 ;HP:0010049 ;HP:0010230 ;HP:0010743
chr18|46570039|46987717|ENSG00000141627.9|ENSG00000141627.9|DYM|DYM|Confirmed DD Gene|Biallelic|Loss of function|Smith-McCort dysplasia (SMC)|10559|607326|12491225 ;19005420|HP:0000007 ;HP:0000252 ;HP:0000268 ;HP:0000882 ;HP:0000884 ;HP:0000926 ;HP:0001552 ;HP:0002515 ;HP:0002650 ;HP:0002681 ;HP:0002692 ;HP:0002808 ;HP:0002857 ;HP:0002970 ;HP:0003025 ;HP:0003274 ;HP:0003311 ;HP:0003467 ;HP:0003521 ;HP:0004568 ;HP:0008829 ;HP:0008835 ;HP:0009803 ;HP:0010049 ;HP:0010582
chr18|47349183|47721463|ENSG00000167306.14|ENSG00000167306.14|MYO5B|MYO5B|Confirmed DD Gene|Biallelic|Loss of function|Microvillus inclusion disease|10813|251850|19006234 ;18724368|HP:0000007 ;HP:0001510 ;HP:0001522 ;HP:0001944 ;HP:0002242 ;HP:0004385 ;HP:0004395
chr18|48494410|48611415|ENSG00000141646.9|ENSG00000141646.9|SMAD4|SMAD4|Both DD and IF|Monoallelic|Loss of function|juvenile polyposis syndrome (JPS)|10510|174900||HP:0000006 ;HP:0001217 ;HP:0001508 ;HP:0001903 ;HP:0002014 ;HP:0002027 ;HP:0002035 ;HP:0002573 ;HP:0002576 ;HP:0002900 ;HP:0003003 ;HP:0003073 ;HP:0004394 ;HP:0006771
chr18|48494410|48611415|ENSG00000141646.9|ENSG00000141646.9|SMAD4|SMAD4|Both DD and IF|Monoallelic|Loss of function|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)|10632|175050||HP:0000006 ;HP:0000421 ;HP:0001009 ;HP:0001217 ;HP:0001297 ;HP:0001634 ;HP:0001653 ;HP:0001724 ;HP:0001903 ;HP:0002408 ;HP:0002573 ;HP:0002672 ;HP:0004784 ;HP:0006548 ;HP:0006574
chr18|48494410|48611415|ENSG00000141646.9|ENSG00000141646.9|SMAD4|SMAD4|Both DD and IF|Monoallelic|Activating|Myhre syndrome|10088|||
chr18|52889562|53332018|ENSG00000196628.9|ENSG00000196628.9|TCF4|TCF4|Confirmed DD Gene|Monoallelic|Loss of function|Pitt-Hopkins syndrome (PTHS)|10422|610954|17436254 ;17436255 ;18728071|HP:0000006 ;HP:0000028 ;HP:0000054 ;HP:0000194 ;HP:0000252 ;HP:0000280 ;HP:0000293 ;HP:0000322 ;HP:0000341 ;HP:0000378 ;HP:0000431 ;HP:0000470 ;HP:0000483 ;HP:0000486 ;HP:0000490 ;HP:0000545 ;HP:0000582 ;HP:0000687 ;HP:0000718 ;HP:0000954 ;HP:0001182 ;HP:0001217 ;HP:0001250 ;HP:0001252 ;HP:0001270 ;HP:0001344 ;HP:0001763 ;HP:0001786 ;HP:0002019 ;HP:0002020 ;HP:0002066 ;HP:0002079 ;HP:0002311 ;HP:0002883 ;HP:0006887 ;HP:0010864
chr18|55313658|55470333|ENSG00000081923.6|ENSG00000081923.6|ATP8B1|ATP8B1|Confirmed DD Gene|Biallelic|Loss of function|ATP8B1-Related Intrahepatic Cholestasis|11857|211600|15317749 ;9500542 ;5762004 ;11093741|HP:0000007 ;HP:0000952 ;HP:0000989 ;HP:0001394 ;HP:0001508 ;HP:0001744 ;HP:0002014 ;HP:0002240 ;HP:0002630 ;HP:0002908 ;HP:0003510 ;HP:0003593 ;HP:0006575
chr18|55711599|56068772|ENSG00000049759.12|ENSG00000049759.12|NEDD4L|NEDD4L|Possible DD Gene|Monoallelic|All missense/in frame|Epileptic encephalopathy|13612||23934111|
chr18|56934267|56941318|ENSG00000134438.9|ENSG00000134438.9|RAX|RAX|Confirmed DD Gene|Biallelic|Loss of function|microphthalmia isolated type 3 (MCOP3)|10291|611038|18783408 ;14662654|HP:0000007 ;HP:0000528 ;HP:0000568 ;HP:0000647 ;HP:0009755
chr18|57098172|57364612|ENSG00000183287.9|ENSG00000183287.9|CCBE1|CCBE1|Confirmed DD Gene|Biallelic|Loss of function|Hennekam lymphangiectasia-lymphedema syndrome (HLLS)|10354|235510|19935664|HP:0000007 ;HP:0000028 ;HP:0000076 ;HP:0000085 ;HP:0000086 ;HP:0000126 ;HP:0000160 ;HP:0000189 ;HP:0000212 ;HP:0000272 ;HP:0000278 ;HP:0000286 ;HP:0000316 ;HP:0000319 ;HP:0000337 ;HP:0000369 ;HP:0000405 ;HP:0000407 ;HP:0000431 ;HP:0000501 ;HP:0000677 ;HP:0000684 ;HP:0000752 ;HP:0000767 ;HP:0001004 ;HP:0001007 ;HP:0001055 ;HP:0001249 ;HP:0001250 ;HP:0001302 ;HP:0001530 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0001698 ;HP:0001762 ;HP:0001773 ;HP:0002035 ;HP:0002202 ;HP:0002243 ;HP:0002593 ;HP:0002650 ;HP:0002750 ;HP:0002866 ;HP:0003073 ;HP:0003298 ;HP:0004279 ;HP:0004440 ;HP:0005183 ;HP:0005280 ;HP:0006531 ;HP:0007598 ;HP:0008229 ;HP:0009473 ;HP:0010554 ;HP:0011065 ;HP:0100539 ;HP:0200055
chr18|59710800|59854351|ENSG00000197563.5|ENSG00000197563.5|PIGN|PIGN|Possible DD Gene|Biallelic|All missense/in frame|Multiple congenital anomalies-hypotonia-seizures syndrome|13559||21493957|
chr18|67671029|67873181|ENSG00000176225.8|ENSG00000176225.8|RTTN|RTTN|Probable DD gene|Biallelic|All missense/in frame|Bilateral diffuse polymicrogyria|13410|614833|22939636|HP:0000007 ;HP:0000252 ;HP:0001250 ;HP:0001257 ;HP:0001260 ;HP:0001273 ;HP:0002126 ;HP:0002342 ;HP:0002353 ;HP:0002465 ;HP:0003502
chr18|72922710|73001905|ENSG00000179981.9|ENSG00000179981.9|TSHZ1|TSHZ1|Possible DD Gene|Monoallelic|Loss of function|Aural atresia, congenital|10750|607842|22152683|HP:0000006 ;HP:0000413
chr18|77439801|77514510|ENSG00000060069.12|ENSG00000060069.12|CTDP1|CTDP1|Confirmed DD Gene|Biallelic|Loss of function|congenital cataracts facial dysmorphism and neuropathy syndrome (CCFDN)|10292|604168|14517542|HP:0000007 ;HP:0000044 ;HP:0000164 ;HP:0000482 ;HP:0000519 ;HP:0000639 ;HP:0000764 ;HP:0001171 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001270 ;HP:0001761 ;HP:0001762 ;HP:0001999 ;HP:0002059 ;HP:0002072 ;HP:0002751 ;HP:0002816 ;HP:0003431 ;HP:0003487 ;HP:0003593 ;HP:0004322 ;HP:0007178 ;HP:0007182 ;HP:0008214 ;HP:0008942 ;HP:0010620 ;HP:0011096
chr19|1383526|1395583|ENSG00000115286.15|ENSG00000115286.15|NDUFS7|NDUFS7|Confirmed DD Gene|Biallelic|Loss of function|Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)|12730|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr19|1397091|1401569|ENSG00000130005.7|ENSG00000130005.7|GAMT|GAMT|Confirmed DD Gene|Biallelic|Loss of function|guanidinoacetate methyltransferase deficiency (GAMT deficiency)|10400|612736|15651030 ;17101918 ;8651275|HP:0000007 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001263 ;HP:0001276 ;HP:0001336 ;HP:0001347 ;HP:0007153 ;HP:0008947
chr19|2427636|2456994|ENSG00000176619.6|ENSG00000176619.6|LMNB2|LMNB2|Possible DD Gene|Monoallelic|Uncertain|Barraquer-Simons syndrome (BaSiS) |11263|608709||HP:0000006 ;HP:0000093 ;HP:0000100 ;HP:0000147 ;HP:0000790 ;HP:0000793 ;HP:0000819 ;HP:0001007 ;HP:0002719 ;HP:0003119 ;HP:0003621 ;HP:0003745 ;HP:0003812 ;HP:0005421 ;HP:0009002 ;HP:0009019 ;HP:0009056
chr19|3630181|3700477|ENSG00000186111.4|ENSG00000186111.4|PIP5K1C|PIP5K1C|Possible DD Gene|Biallelic|All missense/in frame|lethal congenital contracture syndrome type 3|10217|611369||HP:0000007 ;HP:0002093 ;HP:0002804 ;HP:0003202 ;HP:0003811
chr19|4090319|4124126|ENSG00000126934.9|ENSG00000126934.9|MAP2K2|MAP2K2|Confirmed DD Gene|Monoallelic|Activating|cardiofaciocutaneous syndrome (CFC syndrome)|10063|115150||HP:0000006 ;HP:0000126 ;HP:0000156 ;HP:0000164 ;HP:0000176 ;HP:0000238 ;HP:0000268 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000365 ;HP:0000414 ;HP:0000463 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000520 ;HP:0000529 ;HP:0000545 ;HP:0000561 ;HP:0000639 ;HP:0000657 ;HP:0000767 ;HP:0000768 ;HP:0000938 ;HP:0000962 ;HP:0001003 ;HP:0001047 ;HP:0001048 ;HP:0001093 ;HP:0001187 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001276 ;HP:0001508 ;HP:0001561 ;HP:0001622 ;HP:0001631 ;HP:0001639 ;HP:0001642 ;HP:0001744 ;HP:0002002 ;HP:0002013 ;HP:0002019 ;HP:0002020 ;HP:0002120 ;HP:0002212 ;HP:0002217 ;HP:0002223 ;HP:0002750 ;HP:0003196 ;HP:0003477 ;HP:0003577 ;HP:0004209 ;HP:0004322 ;HP:0004482 ;HP:0005280 ;HP:0006114 ;HP:0007333 ;HP:0007370 ;HP:0008064 ;HP:0008070 ;HP:0008113 ;HP:0008872 ;HP:0009891 ;HP:0009908 ;HP:0011220
chr19|6361463|6368919|ENSG00000125656.4|ENSG00000125656.4|CLPP|CLPP|Probable DD gene|Biallelic|All missense/in frame|Perrault Syndrome|13479||23541340|
chr19|6494330|6502859|ENSG00000104833.6|ENSG00000104833.6|TUBB4A|TUBB4A|Confirmed DD Gene|Monoallelic|Activating|Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)|13544||23582646|
chr19|7587512|7598895|ENSG00000090674.11|ENSG00000090674.11|MCOLN1|MCOLN1|Confirmed DD Gene|Biallelic|Loss of function|Mucolipidosis IV|12660|252650|10973263 ;17239335 ;15523648 ;10441585 ;11030752|HP:0000007 ;HP:0000252 ;HP:0000486 ;HP:0000613 ;HP:0000648 ;HP:0000654 ;HP:0001249 ;HP:0001252 ;HP:0001272 ;HP:0001332 ;HP:0001344 ;HP:0001347 ;HP:0001438 ;HP:0002510 ;HP:0003487 ;HP:0003593 ;HP:0004345 ;HP:0006989 ;HP:0007266 ;HP:0007281 ;HP:0007759 ;HP:0007893 ;HP:0011020
chr19|7694623|7696842|ENSG00000229833.5|ENSG00000229833.5|PET100|PET100|Probable DD gene|Biallelic|Loss of function|Mitochondrial complex IV deficiency|13726|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr19|11071598|11176071|ENSG00000127616.13|ENSG00000127616.13|SMARCA4|SMARCA4|Confirmed DD Gene|Monoallelic|Loss of function|Rhabdoid tumor predisposition syndrome 2|10729|613325|20137775|
chr19|11071598|11176071|ENSG00000127616.13|ENSG00000127616.13|SMARCA4|SMARCA4|Confirmed DD Gene|Monoallelic|Loss of function|Coffin Siris|11186|135900||HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000086 ;HP:0000089 ;HP:0000126 ;HP:0000151 ;HP:0000154 ;HP:0000156 ;HP:0000175 ;HP:0000179 ;HP:0000252 ;HP:0000280 ;HP:0000365 ;HP:0000384 ;HP:0000453 ;HP:0000455 ;HP:0000483 ;HP:0000486 ;HP:0000508 ;HP:0000527 ;HP:0000545 ;HP:0000574 ;HP:0000601 ;HP:0000639 ;HP:0000684 ;HP:0000718 ;HP:0000729 ;HP:0000776 ;HP:0000879 ;HP:0000954 ;HP:0000960 ;HP:0000965 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001305 ;HP:0001338 ;HP:0001388 ;HP:0001511 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001643 ;HP:0002079 ;HP:0002205 ;HP:0002209 ;HP:0002219 ;HP:0002566 ;HP:0002576 ;HP:0002588 ;HP:0002592 ;HP:0002650 ;HP:0002673 ;HP:0002750 ;HP:0002808 ;HP:0003083 ;HP:0003298 ;HP:0004227 ;HP:0004322 ;HP:0005280 ;HP:0006498 ;HP:0006863 ;HP:0008398 ;HP:0008872 ;HP:0008897 ;HP:0009747 ;HP:0100391
chr19|11309971|11373157|ENSG00000130158.9|ENSG00000130158.9|DOCK6|DOCK6|Probable DD gene|Biallelic|Loss of function|Adams-Oliver syndrome 2|10758|614219|21820096|HP:0000007 ;HP:0000252 ;HP:0000256 ;HP:0000294 ;HP:0000316 ;HP:0000347 ;HP:0000369 ;HP:0000412 ;HP:0000414 ;HP:0000486 ;HP:0000519 ;HP:0000568 ;HP:0000648 ;HP:0000954 ;HP:0000965 ;HP:0001250 ;HP:0001263 ;HP:0001562 ;HP:0001792 ;HP:0002059 ;HP:0002126 ;HP:0005280 ;HP:0006951
chr19|11685475|11689823|ENSG00000102575.6|ENSG00000102575.6|ACP5|ACP5|Confirmed DD Gene|Biallelic|Loss of function|Spondyloenchondrodysplasia with immune dysregulation|10687|607944|21217755 ;21217752 ;16470600 ;12786759 ;13524805|HP:0000006 ;HP:0000007 ;HP:0000369 ;HP:0000403 ;HP:0000460 ;HP:0000821 ;HP:0000926 ;HP:0000979 ;HP:0001034 ;HP:0001045 ;HP:0001370 ;HP:0001973 ;HP:0002090 ;HP:0002091 ;HP:0002205 ;HP:0002657 ;HP:0002716 ;HP:0003025 ;HP:0003301 ;HP:0003621 ;HP:0004322 ;HP:0004979 ;HP:0005374 ;HP:0005387 ;HP:0005403 ;HP:0005576 ;HP:0007526 ;HP:0011108
chr19|12757325|12777556|ENSG00000104774.8|ENSG00000104774.8|MAN2B1|MAN2B1|Confirmed DD Gene|Biallelic|Loss of function|lysosomal alpha-mannosidosis (AM)|10437|248500|4358183 ;9758606 ;9158146 ;22161967|HP:0000007 ;HP:0000023 ;HP:0000158 ;HP:0000212 ;HP:0000256 ;HP:0000272 ;HP:0000280 ;HP:0000286 ;HP:0000294 ;HP:0000303 ;HP:0000337 ;HP:0000400 ;HP:0000407 ;HP:0000457 ;HP:0000574 ;HP:0000639 ;HP:0000687 ;HP:0000768 ;HP:0000885 ;HP:0000943 ;HP:0000998 ;HP:0001249 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001272 ;HP:0001347 ;HP:0001547 ;HP:0001744 ;HP:0001922 ;HP:0002007 ;HP:0002066 ;HP:0002070 ;HP:0002240 ;HP:0002684 ;HP:0002718 ;HP:0002970 ;HP:0003302 ;HP:0003487 ;HP:0004313 ;HP:0004570 ;HP:0005469 ;HP:0005619 ;HP:0007163 ;HP:0007232 ;HP:0007772 ;HP:0007893 ;HP:0008850
chr19|12917394|12924452|ENSG00000104889.4|ENSG00000104889.4|RNASEH2A|RNASEH2A|Confirmed DD Gene|Biallelic|Loss of function|Aicardi-Goutieres syndrome 4|10790|610333|15870678|HP:0000007 ;HP:0000253 ;HP:0001257 ;HP:0001332 ;HP:0001433 ;HP:0001873 ;HP:0002514 ;HP:0002910 ;HP:0003819 ;HP:0011344
chr19|12995237|12997995|ENSG00000105610.4|ENSG00000105610.4|KLF1|KLF1|Confirmed DD Gene|Monoallelic|Dominant negative|Anemia, dyserythropoietic congenital, type IV|10252|613673|21055716|HP:0000006 ;HP:0001639 ;HP:0001744 ;HP:0001789 ;HP:0001923 ;HP:0002240 ;HP:0002904 ;HP:0003577 ;HP:0004322 ;HP:0010972
chr19|13001840|13025021|ENSG00000105607.8|ENSG00000105607.8|GCDH|GCDH|Confirmed DD Gene|Biallelic|All missense/in frame|Glutaricacidemia Type 1|12305|231670|8900228 ;8900227 ;7795610 ;11174631 ;10699052|HP:0000007 ;HP:0000256 ;HP:0001250 ;HP:0001252 ;HP:0001264 ;HP:0001266 ;HP:0001332 ;HP:0001508 ;HP:0001942 ;HP:0001943 ;HP:0001946 ;HP:0002063 ;HP:0002179 ;HP:0002240 ;HP:0002919 ;HP:0003150 ;HP:0006873 ;HP:0006956 ;HP:0007105
chr19|13106422|13209610|ENSG00000008441.12|ENSG00000008441.12|NFIX|NFIX|Confirmed DD Gene|Monoallelic|Loss of function|MARSHALL-SMITH SYNDROME|10741|602535 ||
chr19|13215716|13228381|ENSG00000104907.8|ENSG00000104907.8|TRMT1|TRMT1|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10043||21937992|
chr19|13317256|13734804|ENSG00000141837.14|ENSG00000141837.14|CACNA1A|CACNA1A|Possible DD Gene|Monoallelic|All missense/in frame|Epileptic encephalopathy|13604||23934111|
chr19|14017014|14041692|ENSG00000132024.13|ENSG00000132024.13|CC2D1A|CC2D1A|Confirmed DD Gene|Biallelic|Loss of function|mental retardation autosomal recessive type 3 (MRT3)|10347|608443|16033914|HP:0000007 ;HP:0000736 ;HP:0000752 ;HP:0001263 ;HP:0002546 ;HP:0003621 ;HP:0006887 ;HP:0008769 ;HP:0010864
chr19|17935589|17958880|ENSG00000105639.14|ENSG00000105639.14|JAK3|JAK3|Confirmed DD Gene|Biallelic|Loss of function|Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell -Positive, NK Cell-Negative, JAK3-Related|12512|600802|7659163 ;7481768 ;10982185 ;11741532|HP:0000007 ;HP:0001287 ;HP:0001508 ;HP:0002014 ;HP:0002090 ;HP:0002733 ;HP:0002788 ;HP:0002965 ;HP:0003139 ;HP:0005214
chr19|17982782|18005983|ENSG00000105641.3|ENSG00000105641.3|SLC5A5|SLC5A5|Confirmed DD Gene|Biallelic|Loss of function|Thyroid Hormonogenesis Defect I|13145|274400|3451231 ;3998954 ;9171822 ;9745458 ;9388506 ;9486973|HP:0000007 ;HP:0000158 ;HP:0000821 ;HP:0000853 ;HP:0000958 ;HP:0001249 ;HP:0001254 ;HP:0001510 ;HP:0001537 ;HP:0002019
chr19|18263928|18281350|ENSG00000105647.10|ENSG00000105647.10|PIK3R2|PIK3R2|Confirmed DD Gene|Monoallelic|Activating|Hemimegalencephaly PIK3R2|13385|603387||HP:0000006 ;HP:0000238 ;HP:0000508 ;HP:0000618 ;HP:0000637 ;HP:0001090 ;HP:0001250 ;HP:0001263 ;HP:0001302 ;HP:0001355 ;HP:0001629 ;HP:0001631 ;HP:0001653 ;HP:0002007 ;HP:0002126 ;HP:0002187 ;HP:0002319 ;HP:0002808 ;HP:0002943 ;HP:0003202 ;HP:0006380 ;HP:0007074 ;HP:0008936 ;HP:0010775 ;HP:0100259
chr19|18893583|18902123|ENSG00000105664.6|ENSG00000105664.6|COMP|COMP|Confirmed DD Gene|Monoallelic|Dominant negative|multiple epiphyseal dysplasia type 1 (EDM1)|10263|132400|9021009 ;7670472 ;9463320 ;9887340 ;12483304|HP:0000006 ;HP:0001387 ;HP:0002515 ;HP:0002656 ;HP:0002663 ;HP:0002761 ;HP:0002857 ;HP:0003300 ;HP:0003301 ;HP:0003502 ;HP:0005743 ;HP:0006429 ;HP:0008800 ;HP:0008843 ;HP:0008873 ;HP:0009803 ;HP:0010049 ;HP:0010582 ;HP:0010585 ;HP:0100864
chr19|18893583|18902123|ENSG00000105664.6|ENSG00000105664.6|COMP|COMP|Confirmed DD Gene|Monoallelic|Dominant negative|are the cause of pseudoachondroplasia (PSACH)|10264|177170||HP:0000006 ;HP:0000763 ;HP:0000772 ;HP:0000926 ;HP:0001156 ;HP:0001377 ;HP:0001379 ;HP:0001380 ;HP:0001388 ;HP:0001498 ;HP:0002341 ;HP:0002515 ;HP:0002650 ;HP:0002663 ;HP:0002758 ;HP:0002808 ;HP:0002816 ;HP:0002829 ;HP:0002857 ;HP:0002938 ;HP:0002970 ;HP:0003016 ;HP:0003025 ;HP:0003026 ;HP:0003049 ;HP:0003093 ;HP:0003311 ;HP:0003414 ;HP:0004236 ;HP:0004568 ;HP:0005063 ;HP:0008873 ;HP:0009487 ;HP:0009882 ;HP:0010049 ;HP:0010582 ;HP:0010585 ;HP:0011405 ;HP:0100168
chr19|18979361|19006905|ENSG00000130283.7|ENSG00000130283.7|GDF1|GDF1|Possible DD Gene|Monoallelic|Loss of function|conotruncal heart malformations|11158|217095||HP:0000007 ;HP:0001660 ;HP:0001669 ;HP:0001719 ;HP:0001939
chr19|18979361|19006905|ENSG00000130283.7|ENSG00000130283.7|GDF1|GDF1|Possible DD Gene|Monoallelic|Loss of function|tetralogy of Fallot|11159|187500||HP:0000006 ;HP:0000337 ;HP:0000520 ;HP:0001636 ;HP:0004209 ;HP:0004467
chr19|18979361|19006905|ENSG00000130283.7|ENSG00000130283.7|GDF1|GDF1|Possible DD Gene|Monoallelic|Loss of function|transposition of the great arteries dextro-looped type 3|11160|613854||
chr19|33877856|34012700|ENSG00000124299.9|ENSG00000124299.9|PEPD|PEPD|Confirmed DD Gene|Biallelic|Loss of function|prolidase deficiency (PD)|10475|170100|19308961 ;8900231 ;15309682 ;17142620 ;6637477 ;2365824 ;1972707 ;16470701|HP:0000007 ;HP:0000316 ;HP:0000508 ;HP:0000520 ;HP:0000967 ;HP:0001263 ;HP:0001744 ;HP:0001873 ;HP:0001903 ;HP:0001939 ;HP:0001999 ;HP:0002099 ;HP:0002162 ;HP:0002240 ;HP:0002725 ;HP:0003196 ;HP:0006528 ;HP:0006532 ;HP:0006579 ;HP:0007473 ;HP:0007489 ;HP:0011220
chr19|35248981|35264134|ENSG00000153896.13|ENSG00000153896.13|ZNF599|ZNF599|Possible DD Gene|Monoallelic|Uncertain|Not in OMIM|11294|||
chr19|35521588|35531352|ENSG00000105711.6|ENSG00000105711.6|SCN1B|SCN1B|Confirmed DD Gene|Monoallelic|Loss of function|Epilepsy, generalized, with febrile seizures plus, type 1	|13588|604233|9697698|HP:0000006 ;HP:0002069 ;HP:0002121 ;HP:0002373 ;HP:0003829 ;HP:0010819
chr19|35521588|35531352|ENSG00000105711.6|ENSG00000105711.6|SCN1B|SCN1B|Confirmed DD Gene|Monoallelic|Loss of function|Brugada syndrome 5|13589|612838|18464934|HP:0000006 ;HP:0001663 ;HP:0011710 ;HP:0012251
chr19|36139125|36149763|ENSG00000126267.4|ENSG00000126267.4|COX6B1|COX6B1|Confirmed DD Gene|Biallelic|Loss of function|mitochondrial complex IV deficiency (MT-C4D)|10366|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr19|36316866|36360189|ENSG00000161270.15|ENSG00000161270.15|NPHS1|NPHS1|Confirmed DD Gene|Biallelic|Loss of function|nephrotic syndrome type 1|11648|256300|10652016 ;10577936 ;9660941 ;17290294 ;11854170; 9660941|HP:0000007 ;HP:0000083 ;HP:0000092 ;HP:0000093 ;HP:0000821 ;HP:0000969 ;HP:0001510 ;HP:0001518 ;HP:0001967 ;HP:0002020 ;HP:0002021 ;HP:0002643 ;HP:0002719 ;HP:0003073 ;HP:0003075 ;HP:0003077 ;HP:0003270 ;HP:0003577 ;HP:0003678 ;HP:0008677
chr19|36486090|36487220|ENSG00000205138.2|ENSG00000205138.2|SDHAF1|SDHAF1|Confirmed DD Gene|Biallelic|All missense/in frame|Mitochondrial complex II deficiency|10161|252011||HP:0000007 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0001319 ;HP:0001324 ;HP:0001332 ;HP:0001336 ;HP:0001347 ;HP:0001639 ;HP:0002151 ;HP:0002352 ;HP:0002376 ;HP:0003200 ;HP:0003487 ;HP:0003546 ;HP:0003593 ;HP:0003812 ;HP:0004322 ;HP:0004897 ;HP:0006980 ;HP:0008314 ;HP:0008316 ;HP:0012240
chr19|36545783|36596008|ENSG00000075702.12|ENSG00000075702.12|WDR62|WDR62|Confirmed DD Gene|Biallelic|Loss of function|microcephaly cortical malformations and mental retardation (MCMMR)|10531|604317|20729831 ;21834044 ;20890279 ;10573015 ;20890278|HP:0000007 ;HP:0000340 ;HP:0000718 ;HP:0000750 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001269 ;HP:0001285 ;HP:0001302 ;HP:0001339 ;HP:0001347 ;HP:0001558 ;HP:0002126 ;HP:0002282 ;HP:0002319 ;HP:0003577 ;HP:0010636 ;HP:0100710
chr19|39989535|39999121|ENSG00000090932.6|ENSG00000090932.6|DLL3|DLL3|Confirmed DD Gene|Biallelic|Loss of function|spondylocostal dysostosis type 1 (SCDO1)|10372|277300|12791036 ;10742114 ;2805381|HP:0000007 ;HP:0000470 ;HP:0000902 ;HP:0001522 ;HP:0002205 ;HP:0002937 ;HP:0002948 ;HP:0003305 ;HP:0003310 ;HP:0003510 ;HP:0003521
chr19|41807492|41859816|ENSG00000105329.5|ENSG00000105329.5|TGFB1|TGFB1|Confirmed DD Gene|Monoallelic|All missense/in frame|Camurati-Engelmann disease (CE)|10182|131300|11062463 ;15103729 ;10973241|HP:0000006 ;HP:0000303 ;HP:0000365 ;HP:0000520 ;HP:0000651 ;HP:0000670 ;HP:0000823 ;HP:0001002 ;HP:0001324 ;HP:0001533 ;HP:0001903 ;HP:0002315 ;HP:0002515 ;HP:0002650 ;HP:0002694 ;HP:0002857 ;HP:0003034 ;HP:0003202 ;HP:0003388 ;HP:0003621 ;HP:0004396 ;HP:0005528 ;HP:0005791 ;HP:0007807 ;HP:0009763
chr19|41884215|41930910|ENSG00000248098.6|ENSG00000248098.6|BCKDHA|BCKDHA|Confirmed DD Gene|Biallelic|Loss of function|Maple Syrup Urine Disease|11010|248600|7883996 ;14742428 ;18378174 ;9582350 ;2703538 ;14742428 ;11509994 ;2022752 ;14508502 ;14742428 ;8430702 ;1847055 ;1990841 ;2010537 ;9621512|HP:0000007 ;HP:0000738 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001276 ;HP:0001507 ;HP:0001733 ;HP:0001943 ;HP:0001946 ;HP:0002013 ;HP:0002181 ;HP:0003128 ;HP:0008344 ;HP:0008872
chr19|42363988|42376994|ENSG00000105372.2|ENSG00000105372.2|RPS19|RPS19|Confirmed DD Gene|Monoallelic|Loss of function|RPS19-Related Diamond-Blackfan Anemia|13004|220176||
chr19|42470734|42501649|ENSG00000105409.11|ENSG00000105409.11|ATP1A3|ATP1A3|Both DD and IF|Monoallelic|All missense/in frame|Rapid-Onset Dystonia-Parkinsonism|11852|128235||HP:0000006 ;HP:0000338 ;HP:0000473 ;HP:0000712 ;HP:0000716 ;HP:0000739 ;HP:0001260 ;HP:0001300 ;HP:0002015 ;HP:0002067 ;HP:0002172 ;HP:0002300 ;HP:0002307 ;HP:0002317 ;HP:0003829 ;HP:0011462
chr19|42470734|42501649|ENSG00000105409.11|ENSG00000105409.11|ATP1A3|ATP1A3|Both DD and IF|Monoallelic|All missense/in frame|Alternating hemiplegia of childhood|13407|104290|22842232|HP:0000006 ;HP:0000639 ;HP:0001249 ;HP:0001266 ;HP:0001268 ;HP:0001332 ;HP:0002069 ;HP:0012194 ;HP:0200072
chr19|42724423|42732353|ENSG00000167625.6|ENSG00000167625.6|ZNF526|ZNF526|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10048||21937992|
chr19|42751724|42759309|ENSG00000105722.5|ENSG00000105722.5|ERF|ERF|Confirmed DD Gene|Monoallelic|Loss of function|Complex craniosynostosis|13522||23354439|
chr19|42772689|42799949|ENSG00000079432.3|ENSG00000079432.3|CIC|CIC|Possible DD Gene|Monoallelic|Uncertain|CAPICUA, DROSOPHILA, HOMOLOG OF; CIC|11244|612082||
chr19|42829761|42882921|ENSG00000105429.8|ENSG00000105429.8|MEGF8|MEGF8|Confirmed DD Gene|Biallelic|Loss of function|CARPENTER SYNDROME|13465|201000||HP:0000007 ;HP:0000028 ;HP:0000072 ;HP:0000126 ;HP:0000156 ;HP:0000248 ;HP:0000272 ;HP:0000286 ;HP:0000327 ;HP:0000347 ;HP:0000369 ;HP:0000377 ;HP:0000405 ;HP:0000407 ;HP:0000470 ;HP:0000482 ;HP:0000506 ;HP:0000648 ;HP:0000826 ;HP:0000960 ;HP:0001156 ;HP:0001162 ;HP:0001249 ;HP:0001513 ;HP:0001537 ;HP:0001539 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001642 ;HP:0001643 ;HP:0001669 ;HP:0001748 ;HP:0001770 ;HP:0001840 ;HP:0001841 ;HP:0002059 ;HP:0002650 ;HP:0002673 ;HP:0002700 ;HP:0002857 ;HP:0002869 ;HP:0002970 ;HP:0003182 ;HP:0003241 ;HP:0003298 ;HP:0004209 ;HP:0004322 ;HP:0004440 ;HP:0004442 ;HP:0004443 ;HP:0004467 ;HP:0005280 ;HP:0006335 ;HP:0006349 ;HP:0006397 ;HP:0007370 ;HP:0007759 ;HP:0009473 ;HP:0009608 ;HP:0009843 ;HP:0009891 ;HP:0010093 ;HP:0010194 ;HP:0010275
chr19|44010871|44031396|ENSG00000105755.3|ENSG00000105755.3|ETHE1|ETHE1|Confirmed DD Gene|Biallelic|Loss of function|Ethylmalonic Encephalopathy|12204|602473|20528888 ;18593870 ;14732903|HP:0000007 ;HP:0000967 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001508 ;HP:0001626 ;HP:0002028 ;HP:0002071 ;HP:0002376 ;HP:0003128 ;HP:0003219 ;HP:0003688 ;HP:0007183 ;HP:0008046
chr19|45853095|45874176|ENSG00000104884.10|ENSG00000104884.10|ERCC2|ERCC2|Confirmed DD Gene|Biallelic|Loss of function|xeroderma pigmentosum complementation group D (XP-D)|10378|278730|11709541 ;7849702 ;11443545 ;9101292 ;7585650|HP:0000007 ;HP:0000252 ;HP:0000407 ;HP:0000491 ;HP:0000509 ;HP:0000613 ;HP:0000621 ;HP:0000656 ;HP:0000992 ;HP:0001009 ;HP:0001029 ;HP:0001249 ;HP:0001251 ;HP:0001257 ;HP:0001265 ;HP:0001266 ;HP:0001268 ;HP:0003079 ;HP:0004334
chr19|45853095|45874176|ENSG00000104884.10|ENSG00000104884.10|ERCC2|ERCC2|Confirmed DD Gene|Biallelic|Loss of function|trichothiodystrophy photosensitive (TTDP)|10560|601675|9758621 ;7920640 ;9195225 ;8571952 ;9012405 ;15220921|HP:0000007 ;HP:0000135 ;HP:0000252 ;HP:0000271 ;HP:0000518 ;HP:0000765 ;HP:0000992 ;HP:0001019 ;HP:0001019 ;HP:0001249 ;HP:0001371 ;HP:0001518 ;HP:0001808 ;HP:0002099 ;HP:0002299 ;HP:0002719 ;HP:0004315 ;HP:0004322 ;HP:0005214 ;HP:0007479 ;HP:0007519
chr19|45853095|45874176|ENSG00000104884.10|ENSG00000104884.10|ERCC2|ERCC2|Confirmed DD Gene|Biallelic|Loss of function|cerebro-oculo-facio-skeletal syndrome type 2 (COFS2)|10561|610756|11443545|HP:0000007 ;HP:0000046 ;HP:0000054 ;HP:0000252 ;HP:0000347 ;HP:0000365 ;HP:0000490 ;HP:0000518 ;HP:0000568 ;HP:0000992 ;HP:0001263 ;HP:0001511 ;HP:0001838 ;HP:0002751 ;HP:0003683 ;HP:0003819 ;HP:0100490
chr19|45910591|45982086|ENSG00000012061.11|ENSG00000012061.11|ERCC1|ERCC1|Confirmed DD Gene|Biallelic|Loss of function|CEREBROOCULOFACIOSKELETAL SYNDROME 4|12202|298956|17273966|
chr19|45910591|45982086|ENSG00000012061.11|ENSG00000012061.11|ERCC1|ERCC1|Confirmed DD Gene|Biallelic|Loss of function|Fanconi Anemia|13550||23623389|
chr19|46268043|46272484|ENSG00000177045.6|ENSG00000177045.6|SIX5|SIX5|Confirmed DD Gene|Monoallelic|All missense/in frame|branchiootorenal syndrome type 2|11524|610896|17357085|HP:0000006 ;HP:0000083 ;HP:0000110 ;HP:0000365 ;HP:0000384 ;HP:0011332
chr19|46272975|46285810|ENSG00000104936.13|ENSG00000104936.13|DMPK|DMPK|Confirmed DD Gene|Monoallelic|Dominant negative|dystrophia myotonica type 1 (DM1)|10235|160900||HP:0000006 ;HP:0000029 ;HP:0000135 ;HP:0000518 ;HP:0001081 ;HP:0001252 ;HP:0001324 ;HP:0001349 ;HP:0001558 ;HP:0001561 ;HP:0002015 ;HP:0002059 ;HP:0002098 ;HP:0002189 ;HP:0002292 ;HP:0002486 ;HP:0004749 ;HP:0005110 ;HP:0006887 ;HP:0008770 ;HP:0008872 ;HP:0011705
chr19|46913629|46916841|ENSG00000169515.5|ENSG00000169515.5|CCDC8|CCDC8|Probable DD gene|Biallelic|Loss of function|Three M syndrome 3|10759|614205|21737058|HP:0000007 ;HP:0000268 ;HP:0000272 ;HP:0000307 ;HP:0000325 ;HP:0000412 ;HP:0000463 ;HP:0000470 ;HP:0001385 ;HP:0001518 ;HP:0002007 ;HP:0003100 ;HP:0003307 ;HP:0004322 ;HP:0004570 ;HP:0010306
chr19|47249303|47280245|ENSG00000181027.6|ENSG00000181027.6|FKRP|FKRP|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5)|10386|613153|15121789|HP:0000007 ;HP:0000238 ;HP:0000541 ;HP:0000545 ;HP:0000568 ;HP:0000589 ;HP:0001302 ;HP:0001305 ;HP:0001321 ;HP:0001712 ;HP:0002093 ;HP:0002187 ;HP:0002365 ;HP:0002500 ;HP:0003236 ;HP:0003560 ;HP:0003577 ;HP:0003819 ;HP:0006829 ;HP:0007033 ;HP:0007260 ;HP:0007957
chr19|47249303|47280245|ENSG00000181027.6|ENSG00000181027.6|FKRP|FKRP|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5)|10568|606612|11592034 ;14647208 ;14652796 ;17336067 ;11071142 ;11053680 ;12654965|HP:0000007 ;HP:0000158 ;HP:0000252 ;HP:0001249 ;HP:0001272 ;HP:0001302 ;HP:0001319 ;HP:0001771 ;HP:0002111 ;HP:0002119 ;HP:0002194 ;HP:0002350 ;HP:0002355 ;HP:0002359 ;HP:0002500 ;HP:0002650 ;HP:0002808 ;HP:0002948 ;HP:0003236 ;HP:0003307 ;HP:0003324 ;HP:0003326 ;HP:0003394 ;HP:0003458 ;HP:0003547 ;HP:0003551 ;HP:0003577 ;HP:0003701 ;HP:0003724 ;HP:0003733 ;HP:0003741 ;HP:0003828 ;HP:0007126 ;HP:0008872 ;HP:0008981 ;HP:0010628
chr19|47249303|47280245|ENSG00000181027.6|ENSG00000181027.6|FKRP|FKRP|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5)|10569|607155|11741828 ;14647208 ;12707439 ;14523375|HP:0000007 ;HP:0000158 ;HP:0001644 ;HP:0001771 ;HP:0002111 ;HP:0002355 ;HP:0002359 ;HP:0002515 ;HP:0002650 ;HP:0002808 ;HP:0002877 ;HP:0002948 ;HP:0003236 ;HP:0003307 ;HP:0003326 ;HP:0003394 ;HP:0003547 ;HP:0003551 ;HP:0003674 ;HP:0003701 ;HP:0003733 ;HP:0003741 ;HP:0003741 ;HP:0003749 ;HP:0003828 ;HP:0005162 ;HP:0008305 ;HP:0008981
chr19|47978401|47987525|ENSG00000118162.9|ENSG00000118162.9|KPTN|KPTN|Probable DD gene|Biallelic|Loss of function|Macrocephaly, Neurodevelopmental Delay, and Seizures|13689||24239382 |
chr19|48322703|48346587|ENSG00000105392.11|ENSG00000105392.11|CRX|CRX|Confirmed DD Gene|Monoallelic|Loss of function|CRX-Related Leber Congenital Amaurosis Leber congenital amaurosis 7	|12064|613829||
chr19|48799714|48825151|ENSG00000105479.11|ENSG00000105479.11|CCDC114|CCDC114|Confirmed DD Gene|Biallelic|Loss of function|Primary Ciliary Dyskinesia|13501|615067|23261302 ;23261303; 23261302|HP:0000007 ;HP:0000403 ;HP:0001696 ;HP:0002110 ;HP:0006532 ;HP:0011108 ;HP:0012256 ;HP:0012265 ;HP:0100750 ;HP:0200073
chr19|49468558|49470135|ENSG00000087086.9|ENSG00000087086.9|FTL|FTL|Confirmed DD Gene|Monoallelic|Loss of function|hereditary hyperferritinemia-cataract syndrome (HHCS)|10276|600886|7493028 ;10759702 ;12200611 ;9226182 ;11849230 ;9292547 ;7669675 ;19176363 ;9414300 ;9414313|HP:0000006 ;HP:0003281 ;HP:0008024 ;HP:0010693
chr19|49468558|49470135|ENSG00000087086.9|ENSG00000087086.9|FTL|FTL|Confirmed DD Gene|Monoallelic|Loss of function|neurodegeneration with brain iron accumulation type 3 (NBIA3)|10307|606159|11438811 ;18854324 ;16116125 ;18413574 ;15099026|HP:0000006 ;HP:0000643 ;HP:0000712 ;HP:0000726 ;HP:0000734 ;HP:0001251 ;HP:0001257 ;HP:0001260 ;HP:0001266 ;HP:0001300 ;HP:0001337 ;HP:0001347 ;HP:0001939 ;HP:0002015 ;HP:0002063 ;HP:0002067 ;HP:0002300 ;HP:0002356 ;HP:0002425 ;HP:0003487 ;HP:0003676 ;HP:0003812 ;HP:0007007 ;HP:0012049
chr19|50138549|50143458|ENSG00000126458.3|ENSG00000126458.3|RRAS|RRAS|Probable DD gene|Monoallelic|Activating|Atypical Noonan syndrome|13720||24705357|
chr19|50364461|50371166|ENSG00000039650.5|ENSG00000039650.5|PNKP|PNKP|Confirmed DD Gene|Biallelic|Loss of function|Epileptic encephalopathy, early infantile, 10|10694|613402|20118933|HP:0000007 ;HP:0000253 ;HP:0000752 ;HP:0001270 ;HP:0002119 ;HP:0002319 ;HP:0010864
chr19|50410082|50433020|ENSG00000213024.6|ENSG00000213024.6|NUP62|NUP62|Probable DD gene|Biallelic|Uncertain|infantile striatonigral degeneration (SNDI)|11268|271930|16786527|HP:0000007 ;HP:0000648 ;HP:0001249 ;HP:0001257 ;HP:0001266 ;HP:0001332 ;HP:0001508 ;HP:0002015 ;HP:0007281 ;HP:0012043
chr19|50815194|50836772|ENSG00000131398.9|ENSG00000131398.9|KCNC3|KCNC3|Both DD and IF|Monoallelic|Uncertain|spinocerebellar ataxia type 13 (SCA13)|11260|605259||HP:0000006 ;HP:0000639 ;HP:0001249 ;HP:0001252 ;HP:0001260 ;HP:0001270 ;HP:0001272 ;HP:0001347 ;HP:0002062 ;HP:0002066 ;HP:0002070 ;HP:0002073 ;HP:0002406 ;HP:0003677
chr19|50887461|50921273|ENSG00000062822.8|ENSG00000062822.8|POLD1|POLD1|Confirmed DD Gene|Monoallelic|All missense/in frame|Subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males|13596|615381|23770608|
chr19|51165084|51222707|ENSG00000161681.11|ENSG00000161681.11|SHANK1|SHANK1|Probable DD gene|Monoallelic|Loss of function|Autism|11190|209850||HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000728 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001426 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0011463
chr19|51848423|51869672|ENSG00000105379.5|ENSG00000105379.5|ETFB|ETFB|Confirmed DD Gene|Biallelic|Loss of function|glutaric aciduria type 2B|10949|231680||HP:0000007 ;HP:0000078 ;HP:0000113 ;HP:0000256 ;HP:0000260 ;HP:0000348 ;HP:0000377 ;HP:0000506 ;HP:0000519 ;HP:0000803 ;HP:0000806 ;HP:0000952 ;HP:0001252 ;HP:0001302 ;HP:0001324 ;HP:0001325 ;HP:0001397 ;HP:0001943 ;HP:0001999 ;HP:0002013 ;HP:0002018 ;HP:0002089 ;HP:0002098 ;HP:0002171 ;HP:0002240 ;HP:0002614 ;HP:0002909 ;HP:0003076 ;HP:0003150 ;HP:0003219 ;HP:0003490 ;HP:0003530 ;HP:0003647 ;HP:0003811 ;HP:0005280
chr19|54693789|54697585|ENSG00000170892.6|ENSG00000170892.6|TSEN34|TSEN34|Probable DD gene|Biallelic|All missense/in frame|Pontocerebellar Hypoplasia Type 2 and Type 4|10209|316970||
chr19|55670031|55678090|ENSG00000167646.9|ENSG00000167646.9|DNAAF3|DNAAF3|Confirmed DD Gene|Biallelic|Loss of function|Primary ciliary dyskineasia|11188|606763|10745040 ;22387996|HP:0000007 ;HP:0000246 ;HP:0000365 ;HP:0000388 ;HP:0000462 ;HP:0000789 ;HP:0001696 ;HP:0002098 ;HP:0002110 ;HP:0002205 ;HP:0003577 ;HP:0012259 ;HP:0012263
chr19|55875757|55881831|ENSG00000095752.2|ENSG00000095752.2|IL11|IL11|Possible DD Gene|Biallelic|All missense/in frame|Craniosynostosis and dental anomalies |10144|614188|21741611|HP:0000007 ;HP:0000243 ;HP:0000248 ;HP:0000262 ;HP:0000268 ;HP:0000316 ;HP:0000327 ;HP:0000684 ;HP:0001085 ;HP:0001159 ;HP:0001822 ;HP:0009803 ;HP:0011069 ;HP:0100798
chr2|1635659|1748624|ENSG00000130508.6|ENSG00000130508.6|PXDN|PXDN|Probable DD gene|Biallelic|Loss of function|Congenital Cataract, Corneal Opacity, and Developmental Glaucoma|10754||21907015|
chr2|1792885|2335032|ENSG00000186487.13|ENSG00000186487.13|MYT1L|MYT1L|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13618|||
chr2|3642426|3692048|ENSG00000118004.13|ENSG00000118004.13|COLEC11|COLEC11|Confirmed DD Gene|Biallelic|Loss of function|3MC SYNDROME 2|10685|265050|2569826 ;8933348 ;21258343|HP:0000007 ;HP:0000028 ;HP:0000175 ;HP:0000204 ;HP:0000289 ;HP:0000316 ;HP:0000337 ;HP:0000365 ;HP:0000426 ;HP:0000431 ;HP:0000437 ;HP:0000473 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000537 ;HP:0000581 ;HP:0001249 ;HP:0001263 ;HP:0001363 ;HP:0001382 ;HP:0001540 ;HP:0002553 ;HP:0002714 ;HP:0002827 ;HP:0002974 ;HP:0002996 ;HP:0002996 ;HP:0003468 ;HP:0005243 ;HP:0008897 ;HP:0009004 ;HP:0010759
chr2|16080686|16087129|ENSG00000134323.10|ENSG00000134323.10|MYCN|MYCN|Confirmed DD Gene|Monoallelic|Loss of function|Feingold syndrome type 1|10994|164280|18671284 ;18470948 ;16906565 ;15821734|HP:0000006 ;HP:0000156 ;HP:0000232 ;HP:0000237 ;HP:0000252 ;HP:0000269 ;HP:0000286 ;HP:0000324 ;HP:0000325 ;HP:0000347 ;HP:0000358 ;HP:0000365 ;HP:0000369 ;HP:0000431 ;HP:0000437 ;HP:0000463 ;HP:0000581 ;HP:0000582 ;HP:0001249 ;HP:0001328 ;HP:0001558 ;HP:0001561 ;HP:0001605 ;HP:0001643 ;HP:0001734 ;HP:0001746 ;HP:0001747 ;HP:0001748 ;HP:0001831 ;HP:0002032 ;HP:0002247 ;HP:0002575 ;HP:0004691 ;HP:0004692 ;HP:0009161 ;HP:0009568
chr2|20110021|20189892|ENSG00000118965.10|ENSG00000118965.10|WDR35|WDR35|Confirmed DD Gene|Biallelic|Loss of function|Cranioectodermal dysplasia 2|10739|613610|20817137|HP:0000007 ;HP:0000023 ;HP:0000232 ;HP:0000268 ;HP:0000316 ;HP:0000369 ;HP:0000377 ;HP:0000470 ;HP:0000506 ;HP:0000581 ;HP:0000687 ;HP:0000691 ;HP:0000767 ;HP:0000774 ;HP:0001159 ;HP:0001363 ;HP:0001388 ;HP:0002007 ;HP:0008070 ;HP:0008905
chr2|20110021|20189892|ENSG00000118965.10|ENSG00000118965.10|WDR35|WDR35|Confirmed DD Gene|Biallelic|Loss of function|Short rib-polydactyly syndrome, type V|10774|614091|21473986|HP:0000007 ;HP:0000107 ;HP:0000773 ;HP:0000774 ;HP:0001159 ;HP:0006487 ;HP:0010442
chr2|20191872|20212455|ENSG00000132031.8|ENSG00000132031.8|MATN3|MATN3|Confirmed DD Gene|Monoallelic|All missense/in frame|multiple epiphyseal dysplasia type 5 (EDM5)|10173|607078|11479597 ;13849708 ;14729835 ;15948199|HP:0000006 ;HP:0001216 ;HP:0002654 ;HP:0002656 ;HP:0002812 ;HP:0002829 ;HP:0002857 ;HP:0003025 ;HP:0003088 ;HP:0003090 ;HP:0003365 ;HP:0006429 ;HP:0008103 ;HP:0010582 ;HP:0010585 ;HP:0100864
chr2|25455845|25565459|ENSG00000119772.12|ENSG00000119772.12|DNMT3A|DNMT3A|Confirmed DD Gene|Monoallelic|All missense/in frame|Overgrowth syndrome with intellectual disability|13743||24614070|
chr2|26624784|26679579|ENSG00000157856.6|ENSG00000157856.6|DRC1|DRC1|Probable DD gene|Biallelic|Loss of function|Primary cilary dyskineasia|13519|244400|23354437|HP:0000007 ;HP:0000246 ;HP:0000389 ;HP:0000405 ;HP:0000458 ;HP:0000462 ;HP:0000481 ;HP:0001334 ;HP:0001425 ;HP:0001696 ;HP:0001746 ;HP:0002090 ;HP:0002110 ;HP:0002257 ;HP:0002315 ;HP:0002688 ;HP:0003251 ;HP:0005938 ;HP:0011109 ;HP:0012263
chr2|26680071|26781566|ENSG00000115155.12|ENSG00000115155.12|OTOF|OTOF|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 9|11512|601071||HP:0000007 ;HP:0000407 ;HP:0004463 ;HP:0008529
chr2|27532360|27548547|ENSG00000115204.10|ENSG00000115204.10|MPV17|MPV17|Confirmed DD Gene|Biallelic|Loss of function|Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|10782|256810|18695062 ;16582910|HP:0000007 ;HP:0000495 ;HP:0000639 ;HP:0001226 ;HP:0001251 ;HP:0001263 ;HP:0001265 ;HP:0001284 ;HP:0001332 ;HP:0001394 ;HP:0001403 ;HP:0001414 ;HP:0001508 ;HP:0001760 ;HP:0001943 ;HP:0002013 ;HP:0002014 ;HP:0002240 ;HP:0002460 ;HP:0002659 ;HP:0002661 ;HP:0002715 ;HP:0002754 ;HP:0002910 ;HP:0003128 ;HP:0003380 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0004322 ;HP:0006554 ;HP:0006579 ;HP:0006582 ;HP:0007021 ;HP:0007141
chr2|27600098|27603657|ENSG00000163795.9|ENSG00000163795.9|ZNF513|ZNF513|Possible DD Gene|Biallelic|All missense/in frame|Retinitis pigmentosa 58 |10139|613617||HP:0000007 ;HP:0000543 ;HP:0000662 ;HP:0001141 ;HP:0007737 ;HP:0007843 ;HP:0008323
chr2|27667238|27712656|ENSG00000138002.10|ENSG00000138002.10|IFT172|IFT172|Confirmed DD Gene|Biallelic|Loss of function|Mainzer-Saldino syndrome|13696||24140113|
chr2|27667238|27712656|ENSG00000138002.10|ENSG00000138002.10|IFT172|IFT172|Confirmed DD Gene|Biallelic|Loss of function|Jeune syndrome|13697||24140113|
chr2|29283842|29297127|ENSG00000179270.6|ENSG00000179270.6|C2orf71|C2orf71|Confirmed DD Gene|Biallelic|Loss of function|Retinitis pigmentosa 54|11175|613428||HP:0000007 ;HP:0000505 ;HP:0000512 ;HP:0000662 ;HP:0001099 ;HP:0007737 ;HP:0007843
chr2|38294116|38337044|ENSG00000138061.7|ENSG00000138061.7|CYP1B1|CYP1B1|Confirmed DD Gene|Biallelic|Uncertain|primary congenital glaucoma type 3A (GLC3A)|11203|231300|9463332 ;12372064 ;19807744 ;15342693 ;19643970 ;10227395 ;9497261 ;9097971|HP:0000007 ;HP:0000557 ;HP:0001425 ;HP:0007906 ;HP:0008041
chr2|38294116|38337044|ENSG00000138061.7|ENSG00000138061.7|CYP1B1|CYP1B1|Confirmed DD Gene|Both|Uncertain|primary open angle glaucoma (POAG)|11221|137760||HP:0000006 ;HP:0000545 ;HP:0012108
chr2|39208537|39351486|ENSG00000115904.8|ENSG00000115904.8|SOS1|SOS1|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome 4|10093|610733|19438935 ;18925667 ;17143285|HP:0000006 ;HP:0000028 ;HP:0000179 ;HP:0000256 ;HP:0000286 ;HP:0000316 ;HP:0000368 ;HP:0000465 ;HP:0000470 ;HP:0000494 ;HP:0000508 ;HP:0000535 ;HP:0000635 ;HP:0000689 ;HP:0000915 ;HP:0001629 ;HP:0001639 ;HP:0001642 ;HP:0002212 ;HP:0002650 ;HP:0002967 ;HP:0003010 ;HP:0004322 ;HP:0005280 ;HP:0006610 ;HP:0009890
chr2|44113647|44223144|ENSG00000138095.14|ENSG00000138095.14|LRPPRC|LRPPRC|Confirmed DD Gene|Biallelic|Loss of function|Leigh Syndrome, French-Canadian Type|12640|220111|12529507|HP:0000007 ;HP:0000272 ;HP:0000294 ;HP:0000316 ;HP:0000431 ;HP:0000463 ;HP:0000486 ;HP:0000750 ;HP:0001007 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001337 ;HP:0001414 ;HP:0001508 ;HP:0001943 ;HP:0002151 ;HP:0002171 ;HP:0002490 ;HP:0002553 ;HP:0002789 ;HP:0003074 ;HP:0003128 ;HP:0003593 ;HP:0006565 ;HP:0007305 ;HP:0011096 ;HP:0011220
chr2|44543420|44589001|ENSG00000138078.11|ENSG00000138078.11|PREPL|PREPL|Possible DD Gene|Biallelic|Loss of function|hypotonia-cystinuria syndrome|11164|606407||HP:0000007 ;HP:0000153 ;HP:0000268 ;HP:0000358 ;HP:0000400 ;HP:0000508 ;HP:0000527 ;HP:0000787 ;HP:0000815 ;HP:0000824 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001466 ;HP:0001508 ;HP:0001558 ;HP:0001611 ;HP:0001998 ;HP:0002007 ;HP:0002342 ;HP:0002591 ;HP:0002901 ;HP:0003128 ;HP:0003131 ;HP:0003287 ;HP:0004324 ;HP:0005280 ;HP:0006887 ;HP:0008872 ;HP:0010864 ;HP:0011398
chr2|45168902|45173216|ENSG00000138083.3|ENSG00000138083.3|SIX3|SIX3|Confirmed DD Gene|Monoallelic|Loss of function|Holoprosencephaly|11076|157170|19346217 ;11039582 ;17001667 ;19353631 ;10369266|HP:0000006 ;HP:0000176 ;HP:0000193 ;HP:0000252 ;HP:0000272 ;HP:0000568 ;HP:0000601 ;HP:0000835 ;HP:0000873 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001274 ;HP:0001321 ;HP:0001360 ;HP:0001425 ;HP:0002019 ;HP:0002650 ;HP:0003745 ;HP:0003828 ;HP:0003829 ;HP:0005273 ;HP:0006315 ;HP:0008501 ;HP:0009914 ;HP:0010626
chr2|47143296|47303276|ENSG00000068724.11|ENSG00000068724.11|TTC7A|TTC7A|Confirmed DD Gene|Biallelic|Loss of function|Intestinal atresia, multiple	|13593|243150|23423984|HP:0000007 ;HP:0001511 ;HP:0001539 ;HP:0001561 ;HP:0001629 ;HP:0002566
chr2|50145643|51259674|ENSG00000179915.16|ENSG00000179915.16|NRXN1|NRXN1|Probable DD gene|Monoallelic|Loss of function|Autism|10711|209850||HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000728 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001426 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0011463
chr2|50145643|51259674|ENSG00000179915.16|ENSG00000179915.16|NRXN1|NRXN1|Probable DD gene|Biallelic|Loss of function|Pitt Hopkins 2|10713|||
chr2|55861400|55921045|ENSG00000138035.10|ENSG00000138035.10|PNPT1|PNPT1|Confirmed DD Gene|Biallelic|Loss of function|Respiratory chain disorder|13467|614932|23084291; 23084291|HP:0000007 ;HP:0001265 ;HP:0001266 ;HP:0001332 ;HP:0001510 ;HP:0003202 ;HP:0006829 ;HP:0100660
chr2|55861400|55921045|ENSG00000138035.10|ENSG00000138035.10|PNPT1|PNPT1|Confirmed DD Gene|Biallelic|All missense/in frame|Hearing loss|13468|||
chr2|58386378|58468507|ENSG00000115392.7|ENSG00000115392.7|FANCL|FANCL|Probable DD gene|Biallelic|Loss of function|FANCL-Related Fanconi Anemia|11035|234480||
chr2|58386378|58468507|ENSG00000115392.7|ENSG00000115392.7|FANCL|FANCL|Probable DD gene|Biallelic|Loss of function|Fanconi Anemia|11036|229154||
chr2|61244360|61279125|ENSG00000162928.8|ENSG00000162928.8|PEX13|PEX13|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 13 (PBD-CG13)|10477|601789||
chr2|61244360|61279125|ENSG00000162928.8|ENSG00000162928.8|PEX13|PEX13|Confirmed DD Gene|Biallelic|Loss of function|adrenoleukodystrophy neonatal (NALD)|10608|202370||HP:0000007 ;HP:0000218 ;HP:0000268 ;HP:0000286 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000565 ;HP:0000846 ;HP:0001249 ;HP:0001250 ;HP:0001999 ;HP:0002007 ;HP:0003455 ;HP:0010696
chr2|62051989|62081278|ENSG00000170264.8|ENSG00000170264.8|FAM161A|FAM161A|Both DD and IF|Biallelic|Loss of function|Retinitis pigmentosa 28|10738|606068||HP:0000007 ;HP:0000510 ;HP:0000543 ;HP:0000662 ;HP:0001133 ;HP:0007737
chr2|63348518|64054977|ENSG00000143951.11|ENSG00000143951.11|WDPCP|WDPCP|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 15 (BBS15)|10395|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr2|69240310|69476459|ENSG00000169604.15|ENSG00000169604.15|ANTXR1|ANTXR1|Confirmed DD Gene|Biallelic|Loss of function|GAPO Syndrome|13548||23602711|
chr2|69622882|69664760|ENSG00000169599.8|ENSG00000169599.8|NFU1|NFU1|Confirmed DD Gene|Biallelic|All missense/in frame|Multiple mitochondrial dysfunctions syndrome 1|10140|605711|22077971 ;11156534|HP:0000007 ;HP:0001254 ;HP:0001263 ;HP:0001324 ;HP:0001508 ;HP:0002092 ;HP:0002093 ;HP:0003128 ;HP:0008972 ;HP:0011968
chr2|71163012|71192536|ENSG00000116039.7|ENSG00000116039.7|ATP6V1B1|ATP6V1B1|Confirmed DD Gene|Biallelic|Loss of function|distal renal tubular acidosis with deafness|10966|267300|12566520 ;9916796 ;18798332|HP:0000007 ;HP:0000407 ;HP:0000787 ;HP:0001947
chr2|71336814|71357369|ENSG00000124370.6|ENSG00000124370.6|MCEE|MCEE|Confirmed DD Gene|Biallelic|Loss of function|methylmalonyl-CoA epimerase deficiency|10955|251120|16752391|HP:0000007 ;HP:0001508 ;HP:0001942 ;HP:0001944 ;HP:0002020 ;HP:0002912 ;HP:0002919
chr2|73114489|73119287|ENSG00000116096.5|ENSG00000116096.5|SPR|SPR|Possible DD Gene|Biallelic|Loss of function|Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency|13177|612716||HP:0000006 ;HP:0000007 ;HP:0000252 ;HP:0000657 ;HP:0000718 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001266 ;HP:0001332 ;HP:0001337 ;HP:0001510 ;HP:0002360 ;HP:0003593 ;HP:0003828 ;HP:0008297 ;HP:0008936
chr2|73612886|73837920|ENSG00000116127.13|ENSG00000116127.13|ALMS1|ALMS1|Confirmed DD Gene|Biallelic|Loss of function|Alstrom syndrome|10965|203800|9063741 ;11941369 ;11941370 ;17594715 ;17850632 ;21877133|HP:0000007 ;HP:0000083 ;HP:0000164 ;HP:0000230 ;HP:0000388 ;HP:0000408 ;HP:0000523 ;HP:0000548 ;HP:0000580 ;HP:0000613 ;HP:0000618 ;HP:0000639 ;HP:0000771 ;HP:0000815 ;HP:0000821 ;HP:0000822 ;HP:0000824 ;HP:0000831 ;HP:0000842 ;HP:0000858 ;HP:0000873 ;HP:0000956 ;HP:0001155 ;HP:0001263 ;HP:0001397 ;HP:0001596 ;HP:0001635 ;HP:0001644 ;HP:0001763 ;HP:0001956 ;HP:0001970 ;HP:0002099 ;HP:0002149 ;HP:0002155 ;HP:0002240 ;HP:0002621 ;HP:0002650 ;HP:0002808 ;HP:0002910 ;HP:0003233 ;HP:0004322 ;HP:0004438 ;HP:0005616 ;HP:0005987 ;HP:0006532
chr2|74056086|74100786|ENSG00000124356.11|ENSG00000124356.11|STAMBP|STAMBP|Confirmed DD Gene|Biallelic|Loss of function|Microcephaly capillary malformation (MIC-CAP) syndrome|13541||23542699|
chr2|74362525|74375121|ENSG00000163170.7|ENSG00000163170.7|BOLA3|BOLA3|Probable DD gene|Biallelic|Loss of function|Multiple mitochondrial dysfunctions syndrome 2|10752|614299|11156534|HP:0000007 ;HP:0001250 ;HP:0001254 ;HP:0001263 ;HP:0001324 ;HP:0001522 ;HP:0001644 ;HP:0002013 ;HP:0002093 ;HP:0002240 ;HP:0003128 ;HP:0008972
chr2|74688184|74692537|ENSG00000115275.7|ENSG00000115275.7|MOGS|MOGS|Probable DD gene|Biallelic|All missense/in frame|Congenital Disorders of Glycosylation|10200|606056||HP:0000007 ;HP:0000156 ;HP:0000269 ;HP:0000278 ;HP:0000445 ;HP:0000527 ;HP:0000581 ;HP:0001188 ;HP:0001250 ;HP:0001252 ;HP:0001939 ;HP:0002240 ;HP:0002791 ;HP:0002943 ;HP:0008872 ;HP:0010557
chr2|84650647|84687169|ENSG00000163541.7|ENSG00000163541.7|SUCLG1|SUCLG1|Confirmed DD Gene|Biallelic|Loss of function|Fatal Infantile Lactic Acidosis|11081|308078||
chr2|86066267|86116137|ENSG00000115525.12|ENSG00000115525.12|ST3GAL5|ST3GAL5|Probable DD gene|Biallelic|Loss of function|Amish Infantile Epilepsy Syndrome|11080|319543||
chr2|88856259|88927094|ENSG00000172071.7|ENSG00000172071.7|EIF2AK3|EIF2AK3|Confirmed DD Gene|Biallelic|Loss of function|Wolcott-Rallison syndrome (WRS)|10375|226980|7551159 ;12960215 ;10932183 ;16813601|HP:0000007 ;HP:0000083 ;HP:0000156 ;HP:0000252 ;HP:0000316 ;HP:0000582 ;HP:0000819 ;HP:0000926 ;HP:0000939 ;HP:0001263 ;HP:0001276 ;HP:0001498 ;HP:0001552 ;HP:0002240 ;HP:0002654 ;HP:0002656 ;HP:0002673 ;HP:0002827 ;HP:0002857 ;HP:0002868 ;HP:0003071 ;HP:0003301 ;HP:0003307 ;HP:0003311 ;HP:0003593 ;HP:0004236 ;HP:0004322 ;HP:0004467 ;HP:0005280 ;HP:0006110 ;HP:0006274 ;HP:0008134 ;HP:0010230 ;HP:0010583 ;HP:0010585
chr2|96778707|96781984|ENSG00000222040.3|ENSG00000222040.3|ADRA2B|ADRA2B|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10002||21937992|
chr2|99061317|99210853|ENSG00000040933.11|ENSG00000040933.11|INPP4A|INPP4A|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10024||21937992|
chr2|99215773|99224978|ENSG00000183513.4|ENSG00000183513.4|COA5|COA5|Possible DD Gene|Biallelic|Loss of function|mitochondrial complex IV deficiency (MT-C4D) |10351|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr2|109335937|109402267|ENSG00000153201.11|ENSG00000153201.11|RANBP2|RANBP2|Possible DD Gene|Monoallelic|All missense/in frame|Acute Necrotizing Encephalopathy 1, Susceptibility to|12940|285648||
chr2|110879888|110962643|ENSG00000144061.8|ENSG00000144061.8|NPHP1|NPHP1|Confirmed DD Gene|Biallelic|Loss of function|nephronophthisis type 1 (NPHP1)|10913|256100|10839884 ;9326933 ;8852662 ;9382140|HP:0000007 ;HP:0000090 ;HP:0000092 ;HP:0000103 ;HP:0000108 ;HP:0000822 ;HP:0001510 ;HP:0001903 ;HP:0001959 ;HP:0003158 ;HP:0003774 ;HP:0005576 ;HP:0005583
chr2|110879888|110962643|ENSG00000144061.8|ENSG00000144061.8|NPHP1|NPHP1|Confirmed DD Gene|Biallelic|Loss of function|Senior-Loken syndrome type 1 (SLSN1)|10914|266900||HP:0000007 ;HP:0000103 ;HP:0000547 ;HP:0001425 ;HP:0001903 ;HP:0001959 ;HP:0003774 ;HP:0004748
chr2|110879888|110962643|ENSG00000144061.8|ENSG00000144061.8|NPHP1|NPHP1|Confirmed DD Gene|Biallelic|Loss of function|Joubert syndrome type 4 (JBTS4)|10915|609583||HP:0000007 ;HP:0000083 ;HP:0000090 ;HP:0000571 ;HP:0000639 ;HP:0000657 ;HP:0001251 ;HP:0001252 ;HP:0001320 ;HP:0002194 ;HP:0002404 ;HP:0002419 ;HP:0005582 ;HP:0011933
chr2|113973574|114036527|ENSG00000125618.12|ENSG00000125618.12|PAX8|PAX8|Confirmed DD Gene|Monoallelic|Loss of function|congenital hypothyroidism non-goitrous type 2 (CHNG2)|10471|218700|11502839 ;15718293 ;9590296 ;15356023 ;11232006|HP:0000158 ;HP:0000821 ;HP:0000853 ;HP:0000958 ;HP:0001252 ;HP:0001254 ;HP:0001510 ;HP:0001537 ;HP:0001615 ;HP:0001662 ;HP:0002019 ;HP:0002045 ;HP:0002750 ;HP:0002904 ;HP:0002925 ;HP:0003270 ;HP:0004491 ;HP:0005990 ;HP:0008191 ;HP:0008872 ;HP:0100028
chr2|121493199|121750229|ENSG00000074047.16|ENSG00000074047.16|GLI2|GLI2|Confirmed DD Gene|Monoallelic|Loss of function|GLI2-Related Holoprosencephaly|11039|261768||
chr2|122288457|122288583|ENSG00000264229.1|ENSG00000264229.1|RNU4ATAC|RNU4ATAC|Confirmed DD Gene|Biallelic|Uncertain|Microcephalic Osteodysplastic Primordial Dwarfism, Type I|11378|210710|22581640 ;21474761 ;21474760 ;17666473|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000089 ;HP:0000107 ;HP:0000237 ;HP:0000252 ;HP:0000269 ;HP:0000340 ;HP:0000347 ;HP:0000369 ;HP:0000377 ;HP:0000448 ;HP:0000470 ;HP:0000520 ;HP:0000535 ;HP:0000653 ;HP:0000878 ;HP:0000890 ;HP:0000926 ;HP:0000946 ;HP:0000954 ;HP:0000958 ;HP:0000962 ;HP:0001156 ;HP:0001176 ;HP:0001249 ;HP:0001250 ;HP:0001274 ;HP:0001302 ;HP:0001508 ;HP:0001511 ;HP:0001562 ;HP:0001631 ;HP:0001636 ;HP:0001680 ;HP:0001833 ;HP:0002209 ;HP:0002282 ;HP:0002335 ;HP:0002750 ;HP:0002827 ;HP:0002980 ;HP:0002987 ;HP:0003042 ;HP:0003044 ;HP:0003051 ;HP:0003273 ;HP:0003498 ;HP:0003826 ;HP:0003865 ;HP:0004616 ;HP:0005753 ;HP:0005792 ;HP:0006380 ;HP:0006400 ;HP:0006579 ;HP:0007333 ;HP:0008551 ;HP:0010049
chr2|127805603|127864931|ENSG00000136717.10|ENSG00000136717.10|BIN1|BIN1|Confirmed DD Gene|Biallelic|Loss of function|Centronuclear Myopathy 2|11880|255200|20142620 ;17676042|HP:0000007 ;HP:0000156 ;HP:0000276 ;HP:0000508 ;HP:0000602 ;HP:0001256 ;HP:0001260 ;HP:0001270 ;HP:0001284 ;HP:0001319 ;HP:0001371 ;HP:0001618 ;HP:0001761 ;HP:0001762 ;HP:0002460 ;HP:0002515 ;HP:0002650 ;HP:0002747 ;HP:0002808 ;HP:0003307 ;HP:0003327 ;HP:0003391 ;HP:0003458 ;HP:0003674 ;HP:0003687 ;HP:0003691 ;HP:0003700 ;HP:0008872 ;HP:0010628
chr2|128014866|128051752|ENSG00000163161.8|ENSG00000163161.8|ERCC3|ERCC3|Confirmed DD Gene|Biallelic|Loss of function|xeroderma pigmentosum complementation group B (XP-B)|10379|610651|16947863 ;4811796 ;8408834|HP:0000007 ;HP:0000135 ;HP:0000252 ;HP:0000407 ;HP:0000518 ;HP:0000568 ;HP:0000580 ;HP:0000648 ;HP:0000762 ;HP:0000992 ;HP:0001249 ;HP:0001251 ;HP:0001272 ;HP:0001347 ;HP:0001480 ;HP:0002119 ;HP:0002135 ;HP:0002671 ;HP:0003224 ;HP:0004322 ;HP:0004334 ;HP:0005328 ;HP:0006739 ;HP:0011400 ;HP:0012056
chr2|128014866|128051752|ENSG00000163161.8|ENSG00000163161.8|ERCC3|ERCC3|Confirmed DD Gene|Biallelic|Loss of function|trichothiodystrophy photosensitive (TTDP) [MIM:601675]|10562|601675||HP:0000007 ;HP:0000135 ;HP:0000252 ;HP:0000271 ;HP:0000518 ;HP:0000765 ;HP:0000992 ;HP:0001019 ;HP:0001019 ;HP:0001249 ;HP:0001371 ;HP:0001518 ;HP:0001808 ;HP:0002099 ;HP:0002299 ;HP:0002719 ;HP:0004315 ;HP:0004322 ;HP:0005214 ;HP:0007479 ;HP:0007519
chr2|131350339|131357123|ENSG00000136698.4|ENSG00000136698.4|CFC1|CFC1|Probable DD gene|Monoallelic|Loss of function|CFC1-Related Conotruncal Heart Malformations|11016|319372||
chr2|135809835|135933964|ENSG00000115839.13|ENSG00000115839.13|RAB3GAP1|RAB3GAP1|Confirmed DD Gene|Biallelic|Loss of function|Warburg micro syndrome type 1|10890|600118|15696165 ;15216543 ;10465117 ;20512159|HP:0000007 ;HP:0000028 ;HP:0000252 ;HP:0000347 ;HP:0000400 ;HP:0000482 ;HP:0000490 ;HP:0000508 ;HP:0000519 ;HP:0000568 ;HP:0000648 ;HP:0000939 ;HP:0001249 ;HP:0001252 ;HP:0001264 ;HP:0001274 ;HP:0001321 ;HP:0001347 ;HP:0001382 ;HP:0001508 ;HP:0001845 ;HP:0002059 ;HP:0002079 ;HP:0002219 ;HP:0002751 ;HP:0003241 ;HP:0004322
chr2|136664247|136743670|ENSG00000115866.6|ENSG00000115866.6|DARS|DARS|Confirmed DD Gene|Biallelic|All missense/in frame|Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity.|13546|615281|23643384; 23643384 |
chr2|145141648|145282147|ENSG00000169554.12|ENSG00000169554.12|ZEB2|ZEB2|Confirmed DD Gene|Monoallelic|Loss of function|Mowat-Wilson syndrome (MWIS)|10297|235730|11595972 ;16688751 ;16088920 ;9719364 ;11279515 ;11592033 ;12451214 ;11891681 ;16532472 ;12920073|HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000048 ;HP:0000176 ;HP:0000252 ;HP:0000307 ;HP:0000316 ;HP:0000378 ;HP:0000431 ;HP:0000490 ;HP:0000494 ;HP:0000508 ;HP:0000565 ;HP:0000612 ;HP:0000684 ;HP:0000687 ;HP:0000767 ;HP:0000768 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001270 ;HP:0001274 ;HP:0001344 ;HP:0001547 ;HP:0001629 ;HP:0001631 ;HP:0001642 ;HP:0001643 ;HP:0001939 ;HP:0002013 ;HP:0002019 ;HP:0002079 ;HP:0002251 ;HP:0002251 ;HP:0002307 ;HP:0002342 ;HP:0002558 ;HP:0003270 ;HP:0003720 ;HP:0004298 ;HP:0004322 ;HP:0004415 ;HP:0004961 ;HP:0005274 ;HP:0009748 ;HP:0009765 ;HP:0009909 ;HP:0011229
chr2|148687968|148779147|ENSG00000115947.9|ENSG00000115947.9|ORC4|ORC4|Confirmed DD Gene|Biallelic|Loss of function|Meier-Gorlin syndrome 2|10682|613800|11477602|HP:0000007 ;HP:0000057 ;HP:0000066 ;HP:0000160 ;HP:0000252 ;HP:0000268 ;HP:0000319 ;HP:0000347 ;HP:0000430 ;HP:0001382 ;HP:0001508 ;HP:0001511 ;HP:0001620 ;HP:0002020 ;HP:0002750 ;HP:0002779 ;HP:0002780 ;HP:0003100 ;HP:0003187 ;HP:0003561 ;HP:0006498 ;HP:0008551 ;HP:0011968
chr2|148778580|149275805|ENSG00000204406.7|ENSG00000204406.7|MBD5|MBD5|Possible DD Gene|Monoallelic|Loss of function| EHMT1-like Intellectual Disability|13390|||
chr2|149632819|149883273|ENSG00000168280.12|ENSG00000168280.12|KIF5C|KIF5C|Probable DD gene|Monoallelic|All missense/in frame|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2|13556|615282|23603762|
chr2|150426148|150444330|ENSG00000168288.8|ENSG00000168288.8|MMADHC|MMADHC|Confirmed DD Gene|Biallelic|Loss of function|methylmalonic aciduria and homocystinuria type cblD (MMADHC)|10451|277410||HP:0000007 ;HP:0000639 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001332 ;HP:0001889 ;HP:0002120 ;HP:0002156 ;HP:0002160 ;HP:0002497 ;HP:0002912 ;HP:0003145 ;HP:0003210 ;HP:0003223 ;HP:0003524 ;HP:0003593 ;HP:0003658 ;HP:0005518 ;HP:0012120
chr2|158592958|158732374|ENSG00000115170.9|ENSG00000115170.9|ACVR1|ACVR1|Probable DD gene|Monoallelic|Activating|Fibrodysplasia ossificans progressiva|10092|135100|18830232 ;18203193 ;19085907 ;19330033 ;16642017|HP:0000006 ;HP:0000405 ;HP:0000407 ;HP:0000687 ;HP:0001249 ;HP:0001596 ;HP:0001822 ;HP:0002093 ;HP:0002650 ;HP:0003016 ;HP:0004209 ;HP:0004629 ;HP:0006429 ;HP:0008449 ;HP:0010034 ;HP:0010054 ;HP:0011987 ;HP:0011988 ;HP:0011989
chr2|162272605|162282381|ENSG00000136535.10|ENSG00000136535.10|TBR1|TBR1|Probable DD gene|Monoallelic|Loss of function|Autism|13495||23160955|
chr2|163123589|163175213|ENSG00000115267.5|ENSG00000115267.5|IFIH1|IFIH1|Confirmed DD Gene|Monoallelic|All missense/in frame|Aicardi-Goutieres syndrome 7|13740|615846|24995871|
chr2|166095912|166248818|ENSG00000136531.9|ENSG00000136531.9|SCN2A|SCN2A|Confirmed DD Gene|Monoallelic|Loss of function|Benign Familial Neonatal Infantile Seizures|11074|248968||
chr2|166095912|166248818|ENSG00000136531.9|ENSG00000136531.9|SCN2A|SCN2A|Confirmed DD Gene|Monoallelic|Loss of function|Nonspecific severe ID|11075|319544||
chr2|166845670|166984523|ENSG00000144285.11|ENSG00000144285.11|SCN1A|SCN1A|Confirmed DD Gene|Monoallelic|Loss of function|SCN1A-Related Seizure Disorders|11073|607208|16505326 ;21753172 ;11359211 ;21555645 ;12566275 ;18680191 ;17000989|HP:0000006 ;HP:0000252 ;HP:0000505 ;HP:0001251 ;HP:0001268 ;HP:0001270 ;HP:0001945 ;HP:0002059 ;HP:0002121 ;HP:0002123 ;HP:0002133 ;HP:0002373 ;HP:0002384 ;HP:0003593 ;HP:0003812 ;HP:0006813
chr2|169779448|169887832|ENSG00000073734.8|ENSG00000073734.8|ABCB11|ABCB11|Confirmed DD Gene|Biallelic|Loss of function|ABCB11-Related Intrahepatic Cholestasis|11728|601847|10579978 ;16039748 ;9806540; 9806540|HP:0000007 ;HP:0000989 ;HP:0001046 ;HP:0001394 ;HP:0001402 ;HP:0001406 ;HP:0001508 ;HP:0001744 ;HP:0002014 ;HP:0002240 ;HP:0002630 ;HP:0002908 ;HP:0003155 ;HP:0003593 ;HP:0003819 ;HP:0004322
chr2|169983619|170219195|ENSG00000081479.8|ENSG00000081479.8|LRP2|LRP2|Confirmed DD Gene|Biallelic|Loss of function|Donnai-Barrow syndrome|10803|222448||HP:0000007 ;HP:0000256 ;HP:0000260 ;HP:0000272 ;HP:0000316 ;HP:0000358 ;HP:0000369 ;HP:0000407 ;HP:0000455 ;HP:0000494 ;HP:0000518 ;HP:0000520 ;HP:0000529 ;HP:0000541 ;HP:0000556 ;HP:0000612 ;HP:0000776 ;HP:0000813 ;HP:0001250 ;HP:0001263 ;HP:0001338 ;HP:0001537 ;HP:0001539 ;HP:0001629 ;HP:0002566 ;HP:0003126 ;HP:0003196 ;HP:0005280 ;HP:0005574 ;HP:0007370 ;HP:0007676 ;HP:0009110 ;HP:0011003 ;HP:0100876
chr2|169983619|170219195|ENSG00000081479.8|ENSG00000081479.8|LRP2|LRP2|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13685||23033978|
chr2|170335688|170382432|ENSG00000163093.7|ENSG00000163093.7|BBS5|BBS5|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 5 (BBS5)|10344|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr2|171669723|171717661|ENSG00000128683.9|ENSG00000128683.9|GAD1|GAD1|Possible DD Gene|Biallelic|Uncertain|cerebral palsy spastic quadriplegic type 1 (CPSQ1)|11248|603513||HP:0000007 ;HP:0000252 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001264 ;HP:0001347 ;HP:0001371 ;HP:0001425 ;HP:0002510 ;HP:0002650 ;HP:0003487 ;HP:0003593
chr2|172290727|172341562|ENSG00000115827.9|ENSG00000115827.9|DCAF17|DCAF17|Possible DD Gene|Biallelic|Loss of function|Woodhouse-Sakati syndrome (WoSaS) |10367|241080||HP:0000007 ;HP:0000013 ;HP:0000044 ;HP:0000054 ;HP:0000325 ;HP:0000407 ;HP:0000412 ;HP:0000426 ;HP:0000674 ;HP:0000709 ;HP:0000738 ;HP:0000815 ;HP:0000819 ;HP:0001249 ;HP:0001260 ;HP:0001266 ;HP:0001332 ;HP:0001587 ;HP:0001596 ;HP:0002071 ;HP:0002213 ;HP:0002925 ;HP:0003077 ;HP:0003812 ;HP:0005135 ;HP:0008070 ;HP:0008697 ;HP:0008734
chr2|173292082|173371181|ENSG00000091409.10|ENSG00000091409.10|ITGA6|ITGA6|Possible DD Gene|Monoallelic|Loss of function|Epidermolysis Bullosa with Pyloric Atresia|12499|226730|9185503|HP:0000007 ;HP:0000119 ;HP:0000656 ;HP:0001030 ;HP:0001056 ;HP:0001057 ;HP:0001060 ;HP:0001075 ;HP:0001522 ;HP:0001561 ;HP:0001798 ;HP:0002032 ;HP:0002041 ;HP:0002164 ;HP:0002804 ;HP:0003341 ;HP:0003577 ;HP:0004399 ;HP:0006254 ;HP:0006297 ;HP:0008404
chr2|176957619|176960666|ENSG00000128714.5|ENSG00000128714.5|HOXD13|HOXD13|Confirmed DD Gene|Monoallelic|Uncertain|synpolydactyly 1 (SPD1)|11256|186000|8817328 ;12414828 ;19060004 ;9758628 ;12900906|HP:0000006 ;HP:0001501 ;HP:0001830 ;HP:0001841 ;HP:0004209 ;HP:0004220 ;HP:0004692 ;HP:0006042 ;HP:0006062 ;HP:0006097 ;HP:0006101 ;HP:0006159 ;HP:0008083
chr2|176957619|176960666|ENSG00000128714.5|ENSG00000128714.5|HOXD13|HOXD13|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly type D (BDD)|11323|113200|12649808|HP:0000006 ;HP:0005627 ;HP:0009642 ;HP:0010077
chr2|176957619|176960666|ENSG00000128714.5|ENSG00000128714.5|HOXD13|HOXD13|Confirmed DD Gene|Monoallelic|Uncertain|syndactyly type 5 (SDTY5)|11324|186300|17236141|HP:0000006 ;HP:0001032 ;HP:0001156 ;HP:0004692 ;HP:0005867 ;HP:0006185 ;HP:0009473 ;HP:0009702 ;HP:0009779 ;HP:0009882 ;HP:0010554 ;HP:0100490
chr2|176957619|176960666|ENSG00000128714.5|ENSG00000128714.5|HOXD13|HOXD13|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly-syndactyly syndrome (BDSD)|11325|610713|17236141|
chr2|176957619|176960666|ENSG00000128714.5|ENSG00000128714.5|HOXD13|HOXD13|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly type E (BDE1)|11326|113300||HP:0000006 ;HP:0000311 ;HP:0000894 ;HP:0001156 ;HP:0001571 ;HP:0005863 ;HP:0006587 ;HP:0008848 ;HP:0010049 ;HP:0010743
chr2|176957619|176960666|ENSG00000128714.5|ENSG00000128714.5|HOXD13|HOXD13|Confirmed DD Gene|Monoallelic|Uncertain|VACTERL association (VACTERL)|11327|192350|19006232|HP:0000047 ;HP:0000074 ;HP:0000076 ;HP:0000086 ;HP:0000104 ;HP:0000110 ;HP:0000126 ;HP:0000239 ;HP:0000453 ;HP:0000766 ;HP:0000772 ;HP:0001159 ;HP:0001195 ;HP:0001199 ;HP:0001508 ;HP:0001511 ;HP:0001602 ;HP:0001629 ;HP:0001636 ;HP:0001643 ;HP:0001669 ;HP:0001739 ;HP:0002023 ;HP:0002032 ;HP:0002085 ;HP:0002144 ;HP:0002414 ;HP:0002575 ;HP:0002650 ;HP:0002974 ;HP:0002984 ;HP:0003468 ;HP:0003745 ;HP:0003974 ;HP:0008897 ;HP:0009778 ;HP:0100258
chr2|178257372|178408564|ENSG00000018510.8|ENSG00000018510.8|AGPS|AGPS|Confirmed DD Gene|Biallelic|Uncertain|rhizomelic chondrodysplasia punctata type 3 (RCDP3)|11240|600121|11152660 ;7807941|HP:0000007 ;HP:0001508 ;HP:0003097 ;HP:0005792 ;HP:0008905 ;HP:0010655
chr2|179316163|179326117|ENSG00000204311.7|ENSG00000204311.7|DFNB59|DFNB59|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 59|10786|610220|17718865 ;17373699 ;16804542 ;17301963 ;17329413|HP:0000007 ;HP:0000407
chr2|179390716|179695529|ENSG00000155657.19|ENSG00000155657.19|TTN|TTN|Possible DD Gene|Biallelic|Loss of function|cause of early-onset myopathy with fatal cardiomyopathy (EOMFC)|10937|611705|17444505|HP:0000007 ;HP:0000508 ;HP:0001270 ;HP:0001644 ;HP:0001699 ;HP:0001939 ;HP:0003198 ;HP:0003324 ;HP:0003577 ;HP:0003593 ;HP:0003687 ;HP:0008981 ;HP:0010628 ;HP:0011675
chr2|189839046|189877472|ENSG00000168542.8|ENSG00000168542.8|COL3A1|COL3A1|Confirmed DD Gene|Monoallelic|Dominant negative|Ehlers-Danlos syndrome type 3 (EDS3)|10254|130020|7833919|HP:0000006 ;HP:0000974 ;HP:0000977 ;HP:0001065 ;HP:0001373 ;HP:0001388 ;HP:0001634 ;HP:0002758
chr2|189839046|189877472|ENSG00000168542.8|ENSG00000168542.8|COL3A1|COL3A1|Confirmed DD Gene|Monoallelic|Dominant negative|Ehlers-Danlos syndrome type 4 (EDS4)|10255|130050|8990011 ;10051163 ;1357232 ;2349939 ;2243125 ;1496983 ;12694234 ;2365710 ;1998337 ;8320698 ;8664902 ;9147870 ;8098182 ;12786757 ;10706896 ;10928898 ;19455184 ;1895316 ;1757960 ;2834369 ;7581395 ;7749417 ;2492273 ;8477261|HP:0000006 ;HP:0000023 ;HP:0000079 ;HP:0000139 ;HP:0000213 ;HP:0000387 ;HP:0000563 ;HP:0000704 ;HP:0000978 ;HP:0000993 ;HP:0001030 ;HP:0001073 ;HP:0001634 ;HP:0001762 ;HP:0001842 ;HP:0002105 ;HP:0002108 ;HP:0002293 ;HP:0004322 ;HP:0004944 ;HP:0005267 ;HP:0006201 ;HP:0006480 ;HP:0009771
chr2|191054461|191208919|ENSG00000198130.10|ENSG00000198130.10|HIBCH|HIBCH|Confirmed DD Gene|Biallelic|Loss of function|HIBCH deficiency|11161|250620|7122152|HP:0000007 ;HP:0001274 ;HP:0001636 ;HP:0001999 ;HP:0003355 ;HP:0003468
chr2|191829084|191885686|ENSG00000115415.14|ENSG00000115415.14|STAT1|STAT1|Confirmed DD Gene|Biallelic|Loss of function|STAT1 deficiency complete (STAT1D)|10934|613796|16585605 ;12590259 ;20841510|
chr2|191829084|191885686|ENSG00000115415.14|ENSG00000115415.14|STAT1|STAT1|Confirmed DD Gene|Biallelic|Loss of function|mendelian susceptibility to mycobacterial disease (MSMD)|10935|209950|16934001 ;11452125|HP:0000007 ;HP:0001438 ;HP:0001871 ;HP:0005661
chr2|191829084|191885686|ENSG00000115415.14|ENSG00000115415.14|STAT1|STAT1|Confirmed DD Gene|Monoallelic|All missense/in frame|familial candidiasis type 7 (CANDF7)|10181|614162|21727188 ;21714643|
chr2|198351305|198381461|ENSG00000144381.12|ENSG00000144381.12|HSPD1|HSPD1|Both DD and IF|Monoallelic|Uncertain|spastic paraplegia autosomal dominant type 13|11243|605280||HP:0000006 ;HP:0000012 ;HP:0000020 ;HP:0001258 ;HP:0001347 ;HP:0002061 ;HP:0002064 ;HP:0002166 ;HP:0002839 ;HP:0003487 ;HP:0003676 ;HP:0007340
chr2|198351305|198381461|ENSG00000144381.12|ENSG00000144381.12|HSPD1|HSPD1|Both DD and IF|Biallelic|Loss of function|leukodystrophy hypomyelinating type 4 (HLD4)|10553|612233||HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001266 ;HP:0001347 ;HP:0001371 ;HP:0002104 ;HP:0002187 ;HP:0002191 ;HP:0002415 ;HP:0003487 ;HP:0003623 ;HP:0005484 ;HP:0008872
chr2|200134223|200335989|ENSG00000119042.12|ENSG00000119042.12|SATB2|SATB2|Confirmed DD Gene|Monoallelic|Loss of function|cleft palate isolated (CPI)|10503|119540|17377962|HP:0000006 ;HP:0000175 ;HP:0000212 ;HP:0000347 ;HP:0001250 ;HP:0002187 ;HP:0009102 ;HP:0011094
chr2|200134223|200335989|ENSG00000119042.12|ENSG00000119042.12|SATB2|SATB2|Confirmed DD Gene|Monoallelic|Loss of function|Nonspecific severe ID|13438|||
chr2|200134223|200335989|ENSG00000119042.12|ENSG00000119042.12|SATB2|SATB2|Confirmed DD Gene|Monoallelic|Loss of function|Syndromal Pierre Robin sequence|13453|||
chr2|202484907|202508293|ENSG00000155755.14|ENSG00000155755.14|TMEM237|TMEM237|Confirmed DD Gene|Biallelic|Loss of function|Joubert syndrome 14|10747|614424|17603801 ;22152675 ;14760273|HP:0000007 ;HP:0000107 ;HP:0000194 ;HP:0000238 ;HP:0000272 ;HP:0000286 ;HP:0000316 ;HP:0000322 ;HP:0000358 ;HP:0000369 ;HP:0000426 ;HP:0000486 ;HP:0000490 ;HP:0000494 ;HP:0000508 ;HP:0000568 ;HP:0000589 ;HP:0000639 ;HP:0000737 ;HP:0000822 ;HP:0001251 ;HP:0001305 ;HP:0001510 ;HP:0002084 ;HP:0002553 ;HP:0010864 ;HP:0100259
chr2|203070903|203103331|ENSG00000116030.12|ENSG00000116030.12|SUMO1|SUMO1|Possible DD Gene|Monoallelic|Loss of function|Cleft Lip +/- Cleft Palate|11082|613705||HP:0100333 ;HP:0100334
chr2|206979541|207024327|ENSG00000023228.9|ENSG00000023228.9|NDUFS1|NDUFS1|Confirmed DD Gene|Biallelic|Loss of function|Leigh Syndrome (nuclear DNA mutation)|12723|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr2|206979541|207024327|ENSG00000023228.9|ENSG00000023228.9|NDUFS1|NDUFS1|Confirmed DD Gene|Biallelic|All missense/in frame|Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)|12724|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr2|207024309|207027652|ENSG00000114942.9|ENSG00000114942.9|EEF1B2|EEF1B2|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10015||21937992|
chr2|208986331|208989225|ENSG00000118231.4|ENSG00000118231.4|CRYGD|CRYGD|Confirmed DD Gene|Monoallelic|Uncertain|cataract autosomal dominant (ADC)|11204|604219||
chr2|208986331|208989225|ENSG00000118231.4|ENSG00000118231.4|CRYGD|CRYGD|Confirmed DD Gene|Monoallelic|Uncertain|cataract congenital non-nuclear polymorphic autosomal dominant (CCP)|11226|601286||HP:0000006 ;HP:0007692
chr2|208986331|208989225|ENSG00000118231.4|ENSG00000118231.4|CRYGD|CRYGD|Confirmed DD Gene|Monoallelic|Uncertain|cataract congenital cerulean type 3 (CCA3)|11227|608983||HP:0000006 ;HP:0007976
chr2|208986331|208989225|ENSG00000118231.4|ENSG00000118231.4|CRYGD|CRYGD|Confirmed DD Gene|Monoallelic|Uncertain|cataract crystalline aculeiform (CACA)|11228|115700|10521291 ;10915766 ;17564961 ;12011157 ;9927684|HP:0000006 ;HP:0000519
chr2|208992861|208994554|ENSG00000163254.4|ENSG00000163254.4|CRYGC|CRYGC|Confirmed DD Gene|Monoallelic|Loss of function|cataract autosomal dominant (ADC)|10280|604219||
chr2|208992861|208994554|ENSG00000163254.4|ENSG00000163254.4|CRYGC|CRYGC|Confirmed DD Gene|Monoallelic|Uncertain|cataract Coppock-like (CCL)|11225|604307|10521291 ;10914683 ;12011157|HP:0000006 ;HP:0008024
chr2|211342406|211543831|ENSG00000021826.10|ENSG00000021826.10|CPS1|CPS1|Confirmed DD Gene|Biallelic|Loss of function|carbamoyl phosphate synthetase 1 deficiency (CPS1D)|10362|237300|11474210 ;9711878 ;8486760 ;19793055 ;17310273|HP:0000007 ;HP:0000737 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001297 ;HP:0001508 ;HP:0001950 ;HP:0001951 ;HP:0001987 ;HP:0002013 ;HP:0002038 ;HP:0002181 ;HP:0003572 ;HP:0005961
chr2|216176540|216214487|ENSG00000138363.10|ENSG00000138363.10|ATIC|ATIC|Confirmed DD Gene|Biallelic|Loss of function|AICA-ribosuria (AICAR)|10492|608688|15114530|HP:0000007 ;HP:0000057 ;HP:0000063 ;HP:0000154 ;HP:0000219 ;HP:0000248 ;HP:0000369 ;HP:0000426 ;HP:0000463 ;HP:0000648 ;HP:0000951 ;HP:0001250 ;HP:0001252 ;HP:0001631 ;HP:0001939 ;HP:0002007 ;HP:0002187 ;HP:0007875 ;HP:0011220 ;HP:0200086
chr2|216861052|216947678|ENSG00000115425.9|ENSG00000115425.9|PECR|PECR|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10034||21937992|
chr2|217277137|217347776|ENSG00000138375.8|ENSG00000138375.8|SMARCAL1|SMARCAL1|Confirmed DD Gene|Biallelic|Loss of function|Schimke Immunoosseous Dysplasia|13153|242900|11799392 ;15523612|HP:0000007 ;HP:0000083 ;HP:0000093 ;HP:0000097 ;HP:0000100 ;HP:0000414 ;HP:0000470 ;HP:0000483 ;HP:0000545 ;HP:0000691 ;HP:0000822 ;HP:0000926 ;HP:0000938 ;HP:0001034 ;HP:0001270 ;HP:0001511 ;HP:0001620 ;HP:0001873 ;HP:0001875 ;HP:0001888 ;HP:0001903 ;HP:0002208 ;HP:0002213 ;HP:0002326 ;HP:0002326 ;HP:0002515 ;HP:0002634 ;HP:0002655 ;HP:0002719 ;HP:0002843 ;HP:0002925 ;HP:0002938 ;HP:0002942 ;HP:0003090 ;HP:0003182 ;HP:0003300 ;HP:0003521 ;HP:0004298 ;HP:0005280 ;HP:0006453 ;HP:0007759 ;HP:0010701
chr2|219523487|219528166|ENSG00000074582.8|ENSG00000074582.8|BCS1L|BCS1L|Confirmed DD Gene|Biallelic|Loss of function|GRACILE syndrome|10945|603358|12215968|HP:0001319 ;HP:0001396 ;HP:0001511 ;HP:0003281 ;HP:0003355 ;HP:0003452 ;HP:0003542 ;HP:0004925
chr2|219919142|219925189|ENSG00000163501.6|ENSG00000163501.6|IHH|IHH|Confirmed DD Gene|Biallelic|All missense/in frame|Acrocapitofemoral dysplasia|10147|607778|12632327|HP:0000007 ;HP:0000767 ;HP:0000768 ;HP:0000773 ;HP:0000774 ;HP:0000887 ;HP:0001216 ;HP:0001821 ;HP:0002650 ;HP:0002812 ;HP:0002866 ;HP:0002869 ;HP:0002938 ;HP:0002970 ;HP:0002984 ;HP:0003022 ;HP:0003097 ;HP:0003099 ;HP:0003300 ;HP:0003498 ;HP:0004279 ;HP:0004482 ;HP:0005736 ;HP:0005753 ;HP:0005792 ;HP:0006438 ;HP:0008789 ;HP:0008873 ;HP:0009638 ;HP:0009882 ;HP:0010017 ;HP:0010049 ;HP:0010241 ;HP:0010575 ;HP:0100864
chr2|219919142|219925189|ENSG00000163501.6|ENSG00000163501.6|IHH|IHH|Confirmed DD Gene|Monoallelic|All missense/in frame|Brachydactyly, type A1|10165|112500|19277064 ;11455389 ;12525541 ;16871364 ;18629882 ;12384778|HP:0000006 ;HP:0001032 ;HP:0001169 ;HP:0001204 ;HP:0001425 ;HP:0004209 ;HP:0004279 ;HP:0004322 ;HP:0005194 ;HP:0006146 ;HP:0006165 ;HP:0006213 ;HP:0006236 ;HP:0009279 ;HP:0009462 ;HP:0009467 ;HP:0009638 ;HP:0009882 ;HP:0010049 ;HP:0010107
chr2|220074490|220083712|ENSG00000115657.8|ENSG00000115657.8|ABCB6|ABCB6|Possible DD Gene|Monoallelic|All missense/in frame|Microphthalmia, isolated, with coloboma 7 |10125|614497||HP:0000006 ;HP:0000568
chr2|220363589|220371710|ENSG00000144591.13|ENSG00000144591.13|GMPPA|GMPPA|Confirmed DD Gene|Biallelic|Loss of function|Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction|13664||24035193|
chr2|220415451|220436581|ENSG00000124006.10|ENSG00000124006.10|OBSL1|OBSL1|Confirmed DD Gene|Biallelic|Loss of function|3-M syndrome 2|10831|612921|19481195|HP:0000007 ;HP:0000272 ;HP:0000463 ;HP:0002007 ;HP:0004322 ;HP:0005274
chr2|223064607|223163715|ENSG00000135903.14|ENSG00000135903.14|PAX3|PAX3|Confirmed DD Gene|Monoallelic|Loss of function|craniofacial-deafness-hand syndrome|11513|122880|6859126|HP:0000006 ;HP:0000272 ;HP:0000316 ;HP:0000327 ;HP:0000407 ;HP:0001193 ;HP:0003196
chr2|223064607|223163715|ENSG00000135903.14|ENSG00000135903.14|PAX3|PAX3|Confirmed DD Gene|Monoallelic|Loss of function|Waardenburg syndrome, type 1|13417|193500|1308353 ;20478267 ;1887852 ;8447316 ;1303193 ;1347148 ;8490648 ;7726174|HP:0000006 ;HP:0000202 ;HP:0000303 ;HP:0000316 ;HP:0000319 ;HP:0000430 ;HP:0000431 ;HP:0000574 ;HP:0000581 ;HP:0000664 ;HP:0000912 ;HP:0001100 ;HP:0001487 ;HP:0002211 ;HP:0002216 ;HP:0002226 ;HP:0002227 ;HP:0002414 ;HP:0002946 ;HP:0003250 ;HP:0005815 ;HP:0007443 ;HP:0007990 ;HP:0008527
chr2|227867427|228028829|ENSG00000081052.10|ENSG00000081052.10|COL4A4|COL4A4|Confirmed DD Gene|Biallelic|Loss of function|Alport syndrome autosomal recessive|10976|203780||HP:0000007 ;HP:0000093 ;HP:0000100 ;HP:0000123 ;HP:0000365 ;HP:0000518 ;HP:0000545 ;HP:0000790 ;HP:0000822 ;HP:0001425 ;HP:0003676 ;HP:0003774 ;HP:0011501 ;HP:0200020
chr2|228029281|228179508|ENSG00000169031.14|ENSG00000169031.14|COL4A3|COL4A3|Confirmed DD Gene|Monoallelic|Loss of function|Alport syndrome autosomal dominant|10974|104200|11134255 ;9269635|HP:0000006 ;HP:0000093 ;HP:0000099 ;HP:0000100 ;HP:0000121 ;HP:0000407 ;HP:0000545 ;HP:0000790 ;HP:0000822 ;HP:0001134 ;HP:0001142 ;HP:0002148 ;HP:0002157 ;HP:0003676 ;HP:0003774 ;HP:0004722
chr2|228029281|228179508|ENSG00000169031.14|ENSG00000169031.14|COL4A3|COL4A3|Confirmed DD Gene|Biallelic|Loss of function|Alport syndrome autosomal recessive|10975|203780|7633417 ;7987301 ;7987396 ;9792860 ;7987396|HP:0000007 ;HP:0000093 ;HP:0000100 ;HP:0000123 ;HP:0000365 ;HP:0000518 ;HP:0000545 ;HP:0000790 ;HP:0000822 ;HP:0001425 ;HP:0003676 ;HP:0003774 ;HP:0011501 ;HP:0200020
chr2|228226872|228246711|ENSG00000168955.3|ENSG00000168955.3|TM4SF20|TM4SF20|Possible DD Gene|Monoallelic|Loss of function|SPECIFIC LANGUAGE IMPAIRMENT 5|13651|615432|23810381|
chr2|228549926|228582728|ENSG00000135917.9|ENSG00000135917.9|SLC19A3|SLC19A3|Confirmed DD Gene|Biallelic|Loss of function|Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	|13120|607483|20065143 ;19387023 ;15871139; 15871139|HP:0000007 ;HP:0000508 ;HP:0000544 ;HP:0000639 ;HP:0001250 ;HP:0001259 ;HP:0001260 ;HP:0001289 ;HP:0001298 ;HP:0001332 ;HP:0001945 ;HP:0002015 ;HP:0002062 ;HP:0002063 ;HP:0002066 ;HP:0002300 ;HP:0002385 ;HP:0002540 ;HP:0003621
chr2|232825955|233209060|ENSG00000144535.15|ENSG00000144535.15|DIS3L2|DIS3L2|Confirmed DD Gene|Biallelic|Loss of function|Perlman syndrome|13445|267000|22306653 ;10508986 ;6093533; 22306653|HP:0000007 ;HP:0000028 ;HP:0000194 ;HP:0000347 ;HP:0000369 ;HP:0000431 ;HP:0000776 ;HP:0000969 ;HP:0001263 ;HP:0001274 ;HP:0001520 ;HP:0001541 ;HP:0001561 ;HP:0001999 ;HP:0002580 ;HP:0002667 ;HP:0003271 ;HP:0004510 ;HP:0005247 ;HP:0005280 ;HP:0008643 ;HP:0008696 ;HP:0010804 ;HP:0011341 ;HP:0011611
chr2|233344537|233352538|ENSG00000171551.7|ENSG00000171551.7|ECEL1|ECEL1|Confirmed DD Gene|Biallelic|Loss of function|Distal Arthrogryposis Type 5D|13503|615065|23261301; 23261301 |HP:0000007 ;HP:0000311 ;HP:0000347 ;HP:0000414 ;HP:0000463 ;HP:0001181 ;HP:0001762 ;HP:0001848 ;HP:0002553 ;HP:0002987
chr2|233385173|233390422|ENSG00000237412.2|ENSG00000237412.2|PRSS56|PRSS56|Confirmed DD Gene|Biallelic|Loss of function|microphthalmia isolated type 6 (MCOP6)|10290|613517|21397065 ;19526372|HP:0000007 ;HP:0000482
chr2|234526291|234681956|ENSG00000241635.3|ENSG00000241635.3|UGT1A1|UGT1A1|Confirmed DD Gene|Biallelic|Loss of function|Crigler-Najjar syndrome, type I|10964|218800|11968090 ;9497253 ;9295054 ;9039987|HP:0000007 ;HP:0000952 ;HP:0001298 ;HP:0001343 ;HP:0008282
chr2|239756673|239795893|ENSG00000233608.2|ENSG00000233608.2|TWIST2|TWIST2|Probable DD gene|Biallelic|Loss of function|SETLEIS SYNDROME|10745|227260|8818454 ;21931173 ;14069095|HP:0000007 ;HP:0000414 ;HP:0000561 ;HP:0000629 ;HP:0002023 ;HP:0005280 ;HP:0008496 ;HP:0008509
chr2|239969864|240323348|ENSG00000068024.12|ENSG00000068024.12|HDAC4|HDAC4|Confirmed DD Gene|Monoallelic|Loss of function|brachydactyly-mental retardation syndrome (BDMR)|10410|600430|20691407; 20691407|HP:0000248 ;HP:0000272 ;HP:0000283 ;HP:0000311 ;HP:0000718 ;HP:0000752 ;HP:0000964 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001265 ;HP:0001428 ;HP:0001513 ;HP:0001682 ;HP:0001831 ;HP:0003577 ;HP:0004322 ;HP:0007021 ;HP:0009803 ;HP:0010049 ;HP:0010743 ;HP:0011675 ;HP:0100716
chr2|241526133|241557122|ENSG00000142330.15|ENSG00000142330.15|CAPN10|CAPN10|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10010||21937992|
chr2|241653181|241759725|ENSG00000130294.10|ENSG00000130294.10|KIF1A|KIF1A|Confirmed DD Gene|Biallelic|Loss of function|Neuropathy, hereditary sensory, type IIC|10755|614213|21820098|HP:0000007 ;HP:0001263 ;HP:0001265 ;HP:0001284 ;HP:0003676 ;HP:0004322
chr2|241653181|241759725|ENSG00000130294.10|ENSG00000130294.10|KIF1A|KIF1A|Confirmed DD Gene|Monoallelic|All missense/in frame|Mental retardation, autosomal dominant 9|10162|614255|21376300|
chr2|241653181|241759725|ENSG00000130294.10|ENSG00000130294.10|KIF1A|KIF1A|Confirmed DD Gene|Biallelic|Loss of function|Neuropathy, hereditary sensory, type IIC|13416|614213|21820098|HP:0000007 ;HP:0001263 ;HP:0001265 ;HP:0001284 ;HP:0003676 ;HP:0004322
chr2|241807896|241819919|ENSG00000172482.4|ENSG00000172482.4|AGXT|AGXT|Both DD and IF|Biallelic|Loss of function|Hyperoxaluria, Primary, Type 1|11779|259900|8101040|HP:0000007 ;HP:0000083 ;HP:0000121 ;HP:0000488 ;HP:0000648 ;HP:0000790 ;HP:0000965 ;HP:0001063 ;HP:0001138 ;HP:0001678 ;HP:0001942 ;HP:0002653 ;HP:0002756 ;HP:0003159 ;HP:0004417 ;HP:0005309 ;HP:0008672 ;HP:0009830 ;HP:0011001 ;HP:0100758
chr20|740724|749131|ENSG00000101276.10|ENSG00000101276.10|SLC52A3|SLC52A3|Confirmed DD Gene|Biallelic|Loss of function|Brown-Vialetto-Van Laere syndrome|10726|211530|21110228 ;16122634 ;20206331 ;20920669|HP:0000007 ;HP:0000407 ;HP:0000467 ;HP:0000508 ;HP:0000544 ;HP:0001251 ;HP:0001252 ;HP:0001283 ;HP:0001308 ;HP:0001347 ;HP:0001605 ;HP:0001621 ;HP:0002015 ;HP:0002058 ;HP:0002093 ;HP:0002205 ;HP:0002312 ;HP:0002650 ;HP:0002808 ;HP:0002877 ;HP:0003621 ;HP:0003676 ;HP:0003701 ;HP:0007097 ;HP:0009113 ;HP:0009130 ;HP:0009830 ;HP:0010307 ;HP:0011448 ;HP:0011449
chr20|939095|982907|ENSG00000101282.4|ENSG00000101282.4|RSPO4|RSPO4|Confirmed DD Gene|Biallelic|Loss of function|Anonychia congenita|10793|206800|17186469 ;17041604 ;17914448 ;18070203 ;4702713|HP:0000007 ;HP:0001798
chr20|2442280|2451499|ENSG00000125835.13|ENSG00000125835.13|SNRPB|SNRPB|Confirmed DD Gene|Monoallelic|Loss of function|Cerebro-costo-mandibular syndrome|13707|||
chr20|3208063|3219836|ENSG00000088836.8|ENSG00000088836.8|SLC4A11|SLC4A11|Both DD and IF|Biallelic|Loss of function|Corneal dystrophy, Fuchs endothelial, 4|10785|613268||HP:0001131
chr20|8112824|8949003|ENSG00000182621.12|ENSG00000182621.12|PLCB1|PLCB1|Possible DD Gene|Biallelic|Loss of function|Epileptic Encephalopathy, Early Infantile, 12|11063|319545||
chr20|9049410|9461889|ENSG00000101333.12|ENSG00000101333.12|PLCB4|PLCB4|Probable DD gene|Monoallelic|All missense/in frame|AURICULOCONDYLAR SYNDROME|10224|602483||HP:0000006 ;HP:0000160 ;HP:0000162 ;HP:0000175 ;HP:0000256 ;HP:0000311 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000378 ;HP:0000384 ;HP:0000402 ;HP:0000678 ;HP:0000689 ;HP:0002094 ;HP:0002104 ;HP:0004451 ;HP:0004453 ;HP:0005216 ;HP:0007627 ;HP:0007628 ;HP:0008537 ;HP:0008559 ;HP:0009088 ;HP:0009102
chr20|10381657|10414870|ENSG00000125863.13|ENSG00000125863.13|MKKS|MKKS|Confirmed DD Gene|Biallelic|Loss of function|McKusick-Kaufman syndrome (MKKS)|10447|236700|10802661|HP:0000007 ;HP:0000028 ;HP:0000072 ;HP:0000113 ;HP:0000126 ;HP:0000143 ;HP:0000145 ;HP:0000148 ;HP:0000969 ;HP:0001159 ;HP:0001162 ;HP:0001374 ;HP:0001586 ;HP:0002023 ;HP:0002089 ;HP:0002251 ;HP:0002564 ;HP:0006159 ;HP:0010741
chr20|10381657|10414870|ENSG00000125863.13|ENSG00000125863.13|MKKS|MKKS|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 6 (BBS6)|10593|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr20|10618332|10654694|ENSG00000101384.7|ENSG00000101384.7|JAG1|JAG1|Confirmed DD Gene|Monoallelic|Loss of function|Alagille Syndrome|11046|279357||
chr20|18488137|18542059|ENSG00000101310.10|ENSG00000101310.10|SEC23B|SEC23B|Confirmed DD Gene|Biallelic|Loss of function|Anemia, dyserythropoietic congenital, type II|10821|224100|19621418 ;19561605|HP:0000007 ;HP:0000952 ;HP:0001081 ;HP:0001744 ;HP:0001923 ;HP:0003352 ;HP:0003655 ;HP:0010972
chr20|30946155|31027122|ENSG00000171456.12|ENSG00000171456.12|ASXL1|ASXL1|Confirmed DD Gene|Monoallelic|Loss of function|Bohring-Opitz syndrome|10677|605039|21706002 ;22419483|HP:0000006 ;HP:0000007 ;HP:0000076 ;HP:0000175 ;HP:0000187 ;HP:0000189 ;HP:0000204 ;HP:0000243 ;HP:0000252 ;HP:0000276 ;HP:0000278 ;HP:0000294 ;HP:0000316 ;HP:0000329 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000431 ;HP:0000486 ;HP:0000520 ;HP:0000545 ;HP:0000582 ;HP:0000960 ;HP:0001007 ;HP:0001052 ;HP:0001159 ;HP:0001169 ;HP:0001182 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001274 ;HP:0001305 ;HP:0001371 ;HP:0001373 ;HP:0001508 ;HP:0001511 ;HP:0001561 ;HP:0001629 ;HP:0001631 ;HP:0001831 ;HP:0001845 ;HP:0001869 ;HP:0002020 ;HP:0002079 ;HP:0002187 ;HP:0002282 ;HP:0002558 ;HP:0002566 ;HP:0003049 ;HP:0003083 ;HP:0005026 ;HP:0005487 ;HP:0006191 ;HP:0006276 ;HP:0006610 ;HP:0011220 ;HP:0011401 ;HP:0011968 ;HP:0100874
chr20|31350191|31397162|ENSG00000088305.14|ENSG00000088305.14|DNMT3B|DNMT3B|Confirmed DD Gene|Biallelic|Loss of function|Immunodeficiency-centromeric instability-facial anomalies syndrome 1	|13427|242860|10555141 ;12239717 ;10647011; 10647011|HP:0000007 ;HP:0000158 ;HP:0000246 ;HP:0000272 ;HP:0000286 ;HP:0000316 ;HP:0000347 ;HP:0000369 ;HP:0000463 ;HP:0001249 ;HP:0001508 ;HP:0001939 ;HP:0002014 ;HP:0002024 ;HP:0002090 ;HP:0002110 ;HP:0003196 ;HP:0003196 ;HP:0004322 ;HP:0004469 ;HP:0005280 ;HP:0005403 ;HP:0010808
chr20|31619454|31631853|ENSG00000167104.7|ENSG00000167104.7|BPIFB6|BPIFB6|Possible DD Gene|Monoallelic|Uncertain|BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3|11242|614110||
chr20|32951041|33099198|ENSG00000078747.8|ENSG00000078747.8|ITCH|ITCH|Probable DD gene|Biallelic|Loss of function|Autoimmune disease, syndromic multisystem|10723|613385|20170897|HP:0000007 ;HP:0000268 ;HP:0000269 ;HP:0000331 ;HP:0000358 ;HP:0000369 ;HP:0000520 ;HP:0001263 ;HP:0001744 ;HP:0002007 ;HP:0002028 ;HP:0002240 ;HP:0004482
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Biallelic|Uncertain|acromesomelic chondrodysplasia Grebe type (AMDG)|11253|200700|12900894 ;12124730 ;9288098|HP:0000007 ;HP:0001162 ;HP:0001371 ;HP:0001522 ;HP:0001773 ;HP:0001964 ;HP:0002984 ;HP:0003022 ;HP:0003038 ;HP:0003086 ;HP:0003097 ;HP:0003826 ;HP:0005736 ;HP:0005792 ;HP:0005914 ;HP:0006228 ;HP:0006498 ;HP:0008081 ;HP:0008873 ;HP:0009803 ;HP:0011927
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Biallelic|Uncertain|acromesomelic chondrodysplasia Hunter-Thompson type (AMDH)|11315|201250|2703235|HP:0000007 ;HP:0000954 ;HP:0001773 ;HP:0002827 ;HP:0002984 ;HP:0002986 ;HP:0003022 ;HP:0003038 ;HP:0003038 ;HP:0003042 ;HP:0003086 ;HP:0005096 ;HP:0005736 ;HP:0006011 ;HP:0006014 ;HP:0006110 ;HP:0006144 ;HP:0008890 ;HP:0009778
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly type C (BDC)|11316|113100||HP:0000006 ;HP:0001762 ;HP:0001772 ;HP:0002750 ;HP:0003067 ;HP:0004209 ;HP:0004322 ;HP:0005819 ;HP:0006206 ;HP:0009324 ;HP:0009331 ;HP:0009349 ;HP:0009356 ;HP:0009417 ;HP:0009436 ;HP:0009456 ;HP:0009461 ;HP:0009463 ;HP:0009464 ;HP:0009495 ;HP:0009516 ;HP:0009523 ;HP:0009527 ;HP:0009534 ;HP:0009536 ;HP:0009575 ;HP:0009587 ;HP:0010034 ;HP:0010259 ;HP:0010442 ;HP:0011929
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Biallelic|Uncertain|Du Pan syndrome|11317|228900|18629880 ;12121354 ;16222676|HP:0000007 ;HP:0001156 ;HP:0001772 ;HP:0001792 ;HP:0002990 ;HP:0002999 ;HP:0004097 ;HP:0006092 ;HP:0008119 ;HP:0008905 ;HP:0009803 ;HP:0010049 ;HP:0010624 ;HP:0010743 ;HP:0010760
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Monoallelic|Uncertain|symphalangism proximal syndrome (SYM1)|11318|185800|16127465 ;16892395 ;18283415 ;10080184 ;11857750 ;11846737|HP:0000006 ;HP:0000381 ;HP:0000405 ;HP:0001204 ;HP:0005880 ;HP:0006152 ;HP:0008368 ;HP:0009702 ;HP:0009843 ;HP:0010047 ;HP:0010194
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Monoallelic|Uncertain|multiple synostoses syndrome type 2 (SYNS2)|11319|610017||HP:0000006 ;HP:0000445 ;HP:0002948 ;HP:0003041 ;HP:0008368 ;HP:0009700 ;HP:0009702
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly type A2 (BDA2)|11320|112600||HP:0000006 ;HP:0001822 ;HP:0004209 ;HP:0004322 ;HP:0004691 ;HP:0008096 ;HP:0009161 ;HP:0009182 ;HP:0009204 ;HP:0009464 ;HP:0009467 ;HP:0009514 ;HP:0009536 ;HP:0009568 ;HP:0009575 ;HP:0010055 ;HP:0010109 ;HP:0010194
chr20|34021145|34042568|ENSG00000125965.4|ENSG00000125965.4|GDF5|GDF5|Confirmed DD Gene|Monoallelic|Uncertain|brachydactyly type A1 (BDA1)|11321|112500||HP:0000006 ;HP:0001032 ;HP:0001169 ;HP:0001204 ;HP:0001425 ;HP:0004209 ;HP:0004279 ;HP:0004322 ;HP:0005194 ;HP:0006146 ;HP:0006165 ;HP:0006213 ;HP:0006236 ;HP:0009279 ;HP:0009462 ;HP:0009467 ;HP:0009638 ;HP:0009882 ;HP:0010049 ;HP:0010107
chr20|35518632|35580246|ENSG00000101347.7|ENSG00000101347.7|SAMHD1|SAMHD1|Confirmed DD Gene|Biallelic|Loss of function|Aicardi-Goutieres Syndrome|11072|239588||
chr20|39314488|39317880|ENSG00000204103.2|ENSG00000204103.2|MAFB|MAFB|Confirmed DD Gene|Monoallelic|Activating|MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO|10107|166300|22387013; 22387013|HP:0000006 ;HP:0000083 ;HP:0000093 ;HP:0000112 ;HP:0000327 ;HP:0000347 ;HP:0000520 ;HP:0000822 ;HP:0000938 ;HP:0001193 ;HP:0001225 ;HP:0001473 ;HP:0001495 ;HP:0001504 ;HP:0001761 ;HP:0001785 ;HP:0002829 ;HP:0006234
chr20|42984340|43061485|ENSG00000101076.12|ENSG00000101076.12|HNF4A|HNF4A|Both DD and IF|Monoallelic|Loss of function|HNF4A-Related Maturity-Onset Diabetes of the Young Type 1|12430|125850|8945471|HP:0000006 ;HP:0004904
chr20|42984340|43061485|ENSG00000101076.12|ENSG00000101076.12|HNF4A|HNF4A|Both DD and IF|Monoallelic|Uncertain|Atypical dominant Fanconi syndrome with MODY|12431|315353|24285859|
chr20|43248163|43280874|ENSG00000196839.8|ENSG00000196839.8|ADA|ADA|Confirmed DD Gene|Biallelic|Loss of function|Adenosine Deaminase Deficiency|11766|102700|3182793 ;3475710 ;11807006 ;21228398 ;3684597 ;8614422 ;3839802 ;46025 ;9225964 ;1680289 ;2166947 ;2783588 ;8031011 ;8673127 ;9361033 ;980079 ;8227344; 3839802|HP:0000007 ;HP:0000246 ;HP:0000907 ;HP:0000926 ;HP:0001442 ;HP:0001508 ;HP:0001744 ;HP:0001880 ;HP:0001888 ;HP:0001890 ;HP:0001967 ;HP:0001973 ;HP:0002014 ;HP:0002090 ;HP:0002099 ;HP:0002240 ;HP:0002644 ;HP:0002718 ;HP:0002841 ;HP:0003212 ;HP:0004429 ;HP:0004430 ;HP:0005359 ;HP:0005365 ;HP:0005424 ;HP:0010976 ;HP:0012191
chr20|44518783|44527459|ENSG00000064601.12|ENSG00000064601.12|CTSA|CTSA|Confirmed DD Gene|Biallelic|Loss of function|galactosialidosis (GSL)|10489|256540|9603439 ;8514852 ;10944848 ;8968752 ;1756715|HP:0000007 ;HP:0000280 ;HP:0000365 ;HP:0000524 ;HP:0000943 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001433 ;HP:0003510 ;HP:0007759 ;HP:0008166 ;HP:0010729
chr20|45338126|45364965|ENSG00000197496.4|ENSG00000197496.4|SLC2A10|SLC2A10|Confirmed DD Gene|Biallelic|Loss of function|Arterial tortuosity syndrome|10781|208050|17935213 ;14569121 ;16550171|HP:0000007 ;HP:0000023 ;HP:0000156 ;HP:0000276 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000444 ;HP:0000494 ;HP:0000563 ;HP:0000581 ;HP:0000767 ;HP:0000768 ;HP:0000776 ;HP:0000822 ;HP:0000973 ;HP:0000978 ;HP:0001027 ;HP:0001166 ;HP:0001249 ;HP:0001252 ;HP:0001371 ;HP:0001388 ;HP:0001537 ;HP:0001650 ;HP:0001659 ;HP:0001714 ;HP:0001977 ;HP:0002036 ;HP:0002140 ;HP:0003577 ;HP:0004415 ;HP:0004415 ;HP:0004955 ;HP:0006687 ;HP:0007421
chr20|47538427|47653230|ENSG00000124198.8|ENSG00000124198.8|ARFGEF2|ARFGEF2|Probable DD gene|Biallelic|Loss of function|Periventricular heterotopia with microcephaly|11835|608097|14647276; 14647276|HP:0000007 ;HP:0001250 ;HP:0001263 ;HP:0007165
chr20|49505585|49547958|ENSG00000101126.11|ENSG00000101126.11|ADNP|ADNP|Confirmed DD Gene|Monoallelic|Loss of function|MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28; MRD28|13742|615873|24531329|
chr20|49551404|49575092|ENSG00000000419.8|ENSG00000000419.8|DPM1|DPM1|Confirmed DD Gene|Biallelic|Loss of function|Congenital Disorders of Glycosylation|11027|608799|10642602 ;10642597|HP:0000007 ;HP:0000316 ;HP:0000486 ;HP:0000494 ;HP:0001009 ;HP:0001028 ;HP:0001250 ;HP:0001252 ;HP:0001508 ;HP:0001643 ;HP:0001744 ;HP:0001976 ;HP:0002098 ;HP:0002164 ;HP:0002240 ;HP:0002353 ;HP:0002395 ;HP:0002705 ;HP:0002910 ;HP:0002910 ;HP:0003236 ;HP:0003642 ;HP:0003645 ;HP:0004279 ;HP:0004855 ;HP:0005280 ;HP:0005469 ;HP:0005484 ;HP:0005543 ;HP:0006380 ;HP:0006466 ;HP:0009824 ;HP:0011344 ;HP:0100704 ;HP:0200055
chr20|50400581|50419059|ENSG00000101115.8|ENSG00000101115.8|SALL4|SALL4|Confirmed DD Gene|Monoallelic|Loss of function|Acro-Renal-Ocular Syndrome|11070|217001||
chr20|50400581|50419059|ENSG00000101115.8|ENSG00000101115.8|SALL4|SALL4|Confirmed DD Gene|Monoallelic|Loss of function|Duane-Radial Ray Syndrome|11071|173212||
chr20|57414773|57486247|ENSG00000087460.19|ENSG00000087460.19|GNAS|GNAS|Confirmed DD Gene|Monoallelic|Activating|GNAS hyperfunction (GNASHYP)|10085|139320||
chr20|57414773|57486247|ENSG00000087460.19|ENSG00000087460.19|GNAS|GNAS|Confirmed DD Gene|Mosaic|Activating|ACTH-independent macronodular adrenal hyperplasia (AIMAH)|10086|219080||HP:0000006 ;HP:0000311 ;HP:0000709 ;HP:0000713 ;HP:0000716 ;HP:0000739 ;HP:0000822 ;HP:0000938 ;HP:0000939 ;HP:0000963 ;HP:0000978 ;HP:0001065 ;HP:0001268 ;HP:0001575 ;HP:0001579 ;HP:0001956 ;HP:0002664 ;HP:0002808 ;HP:0002920 ;HP:0003118 ;HP:0003202 ;HP:0003581 ;HP:0003745 ;HP:0008231
chr20|57414773|57486247|ENSG00000087460.19|ENSG00000087460.19|GNAS|GNAS|Confirmed DD Gene|Monoallelic|Loss of function|Albright hereditary osteodystrophy (AHO)|10663|103580|11073544 ;8702665 ;8072545 ;11095461 ;17299070 ;9328353 ;1505964 ;2122458 ;10487696|HP:0000006 ;HP:0000135 ;HP:0000293 ;HP:0000311 ;HP:0000470 ;HP:0000518 ;HP:0000639 ;HP:0000684 ;HP:0000821 ;HP:0000852 ;HP:0000939 ;HP:0001249 ;HP:0001250 ;HP:0001513 ;HP:0001831 ;HP:0002135 ;HP:0002684 ;HP:0002905 ;HP:0003165 ;HP:0003456 ;HP:0003472 ;HP:0003812 ;HP:0004322 ;HP:0005280 ;HP:0006297 ;HP:0006960 ;HP:0009381 ;HP:0010049 ;HP:0010743
chr20|57414773|57486247|ENSG00000087460.19|ENSG00000087460.19|GNAS|GNAS|Confirmed DD Gene|Imprinted|Loss of function|pseudohypoparathyroidism type 1B (PHP1B)|10664|603233|15592469 ;18182455 ;11029463|HP:0000006 ;HP:0000852 ;HP:0001156 ;HP:0001513 ;HP:0002901 ;HP:0002905 ;HP:0003165 ;HP:0003456 ;HP:0003745 ;HP:0010049
chr20|61447596|61472511|ENSG00000092758.11|ENSG00000092758.11|COL9A3|COL9A3|Confirmed DD Gene|Monoallelic|Dominant negative|multiple epiphyseal dysplasia type 3 (EDM3)|10258|600969|10655510 ;15551337 ;10090888|HP:0000006 ;HP:0001384 ;HP:0002656 ;HP:0002663 ;HP:0002758 ;HP:0003236 ;HP:0003502 ;HP:0003701 ;HP:0010049 ;HP:0010582 ;HP:0010585
chr20|61975420|62009753|ENSG00000101204.11|ENSG00000101204.11|CHRNA4|CHRNA4|Possible DD Gene|Monoallelic|Activating|nocturnal frontal lobe epilepsy type 1 (ENFL1)|10058|600513||HP:0000006 ;HP:0000708 ;HP:0001249 ;HP:0001250 ;HP:0001297 ;HP:0003621 ;HP:0003829 ;HP:0007359
chr20|62037542|62103993|ENSG00000075043.13|ENSG00000075043.13|KCNQ2|KCNQ2|Confirmed DD Gene|Monoallelic|Loss of function|benign neonatal epilepsy type 1 (EBN1)|10425|121200|16235065 ;9430594 ;10323247 ;15249611 ;11572947 ;11175290 ;9425895 ;17872363|HP:0000006 ;HP:0000007 ;HP:0001263 ;HP:0001270 ;HP:0001425 ;HP:0002069 ;HP:0002266 ;HP:0002373 ;HP:0002411 ;HP:0003623 ;HP:0003812
chr20|62037542|62103993|ENSG00000075043.13|ENSG00000075043.13|KCNQ2|KCNQ2|Confirmed DD Gene|Monoallelic|Loss of function|epileptic encephalopathy early infantile type 7 (EIEE7)|10583|613720|12742592 ;22275249|HP:0000006 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001285 ;HP:0001332 ;HP:0003593
chr20|62119366|62130505|ENSG00000101210.6|ENSG00000101210.6|EEF1A2|EEF1A2|Probable DD gene|Monoallelic|Activating|Infantile epileptic encephalopathy|13700||23647072|
chr21|33964389|33985176|ENSG00000159079.14|ENSG00000159079.14|C21orf59|C21orf59|Probable DD gene|Biallelic|Loss of function|Primary Ciliary Dyskinesia|13668|||
chr21|35818988|35884573|ENSG00000180509.7|ENSG00000180509.7|KCNE1|KCNE1|Both DD and IF|Biallelic|All missense/in frame|Jervell and Lange-Nielsen syndrome type 2|10193|612347||HP:0000007 ;HP:0000407 ;HP:0001279 ;HP:0001657
chr21|35818988|35884573|ENSG00000180509.7|ENSG00000180509.7|KCNE1|KCNE1|Both DD and IF|Monoallelic|All missense/in frame|Long QT syndrome-5	|10214|613695||HP:0000006 ;HP:0001279 ;HP:0001645 ;HP:0001657 ;HP:0001663 ;HP:0001664
chr21|37832919|37948867|ENSG00000159261.6|ENSG00000159261.6|CLDN14|CLDN14|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 29|10973|614035|15880785 ;11163249|
chr21|38123189|38362536|ENSG00000159267.10|ENSG00000159267.10|HLCS|HLCS|Confirmed DD Gene|Biallelic|Loss of function|Holocarboxylase Synthetase Deficiency|12424|609018||
chr21|38738092|38889753|ENSG00000157540.15|ENSG00000157540.15|DYRK1A|DYRK1A|Confirmed DD Gene|Monoallelic|Loss of function|mental retardation autosomal dominant type 7|10996|614104|23099646 ;23160955 ;21294719;  21294719|
chr21|38738092|38889753|ENSG00000157540.15|ENSG00000157540.15|DYRK1A|DYRK1A|Confirmed DD Gene|Monoallelic|Loss of function|Autism|13493||23160955|
chr21|43159529|43187266|ENSG00000183421.7|ENSG00000183421.7|RIPK4|RIPK4|Confirmed DD Gene|Biallelic|Loss of function|POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE|10709|263650|22197488 ;15264293|HP:0000007 ;HP:0000050 ;HP:0000059 ;HP:0000062 ;HP:0000175 ;HP:0000204 ;HP:0000316 ;HP:0000327 ;HP:0000347 ;HP:0000369 ;HP:0000378 ;HP:0000561 ;HP:0000568 ;HP:0000882 ;HP:0001159 ;HP:0001511 ;HP:0001792 ;HP:0001798 ;HP:0002006 ;HP:0002025 ;HP:0002223 ;HP:0003196 ;HP:0006610 ;HP:0007418 ;HP:0008689 ;HP:0009755 ;HP:0009756 ;HP:0009777 ;HP:0009803
chr21|43892596|43916464|ENSG00000160188.5|ENSG00000160188.5|RSPH1|RSPH1|Confirmed DD Gene|Biallelic|Loss of function|Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects|13630||23993197|
chr21|44473301|44497053|ENSG00000160200.13|ENSG00000160200.13|CBS|CBS|Confirmed DD Gene|Biallelic|Loss of function|cystathionine beta-synthase deficiency (CBSD)|10353|236200|8990018 ;10780316 ;7506602 ;9361025 ;8755636 ;8353501 ;1301198 ;8528202 ;14635102 ;16479318|HP:0000007 ;HP:0000023 ;HP:0000098 ;HP:0000156 ;HP:0000501 ;HP:0000545 ;HP:0000678 ;HP:0000767 ;HP:0000768 ;HP:0000939 ;HP:0000965 ;HP:0001010 ;HP:0001083 ;HP:0001166 ;HP:0001249 ;HP:0001250 ;HP:0001297 ;HP:0001376 ;HP:0001397 ;HP:0001508 ;HP:0001519 ;HP:0001634 ;HP:0001658 ;HP:0001733 ;HP:0001907 ;HP:0002156 ;HP:0002299 ;HP:0002751 ;HP:0004586 ;HP:0012075
chr21|44589118|44592915|ENSG00000160202.3|ENSG00000160202.3|CRYAA|CRYAA|Confirmed DD Gene|Both|All missense/in frame|Cataract, autosomal dominant nuclear|11198|123580|19182255|
chr21|44589118|44592915|ENSG00000160202.3|ENSG00000160202.3|CRYAA|CRYAA|Confirmed DD Gene|Biallelic|Loss of function|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1|13477|123580|11006246|
chr21|45192393|45196326|ENSG00000160213.5|ENSG00000160213.5|CSTB|CSTB|Confirmed DD Gene|Biallelic|Loss of function|Unverricht-Lundborg Disease|12076|254800|9342192 ;15329070 ;9012407 ;8596935|HP:0000007 ;HP:0001251 ;HP:0001260 ;HP:0001268 ;HP:0001336 ;HP:0002069 ;HP:0002121
chr21|45705721|45718531|ENSG00000160224.12|ENSG00000160224.12|AIRE|AIRE|Both DD and IF|Biallelic|Loss of function|Autoimmune Polyendocrinopathy Syndrome Type 1|11785|240300|9398839|HP:0000007 ;HP:0000134 ;HP:0000829 ;HP:0001045 ;HP:0001081 ;HP:0001096 ;HP:0001596 ;HP:0001746 ;HP:0001903 ;HP:0002014 ;HP:0002024 ;HP:0002582 ;HP:0002728 ;HP:0003621 ;HP:0004319 ;HP:0006297 ;HP:0100651
chr21|46825052|46933634|ENSG00000182871.10|ENSG00000182871.10|COL18A1|COL18A1|Confirmed DD Gene|Biallelic|Loss of function|Knobloch Syndrome Type I|12023|315926|10942434|
chr21|47556176|47575481|ENSG00000160282.9|ENSG00000160282.9|FTCD|FTCD|Confirmed DD Gene|Biallelic|Loss of function|glutamate formiminotransferase deficiency (FIGLU-URIA)|10396|229100|12815595|HP:0000007 ;HP:0001249 ;HP:0001510 ;HP:0001889 ;HP:0003355 ;HP:0003612 ;HP:0004821
chr21|47744036|47865682|ENSG00000160299.12|ENSG00000160299.12|PCNT|PCNT|Confirmed DD Gene|Biallelic|Loss of function|Microcephalic osteodysplastic primordial dwarfism, type II|10807|210720|15372530 ;19839044 ;18174396|HP:0000007 ;HP:0000047 ;HP:0000252 ;HP:0000278 ;HP:0000340 ;HP:0000426 ;HP:0000448 ;HP:0000540 ;HP:0000582 ;HP:0000691 ;HP:0000774 ;HP:0000826 ;HP:0000882 ;HP:0000890 ;HP:0000957 ;HP:0001249 ;HP:0001263 ;HP:0001377 ;HP:0001511 ;HP:0001620 ;HP:0001956 ;HP:0002209 ;HP:0002690 ;HP:0002750 ;HP:0002812 ;HP:0002866 ;HP:0002982 ;HP:0002986 ;HP:0003015 ;HP:0003031 ;HP:0003275 ;HP:0003498 ;HP:0004209 ;HP:0004944 ;HP:0005819 ;HP:0005978 ;HP:0006297 ;HP:0006461 ;HP:0006587 ;HP:0006645 ;HP:0008551 ;HP:0009193 ;HP:0009882 ;HP:0010034 ;HP:0010579 ;HP:0010583 ;HP:0011834 ;HP:0100263
chr22|18560689|18613905|ENSG00000215193.8|ENSG00000215193.8|PEX26|PEX26|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 8 (PBD-CG8)|10479|608666||
chr22|18560689|18613905|ENSG00000215193.8|ENSG00000215193.8|PEX26|PEX26|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10611|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr22|18560689|18613905|ENSG00000215193.8|ENSG00000215193.8|PEX26|PEX26|Confirmed DD Gene|Biallelic|Loss of function|adrenoleukodystrophy neonatal (NALD)|10612|202370||HP:0000007 ;HP:0000218 ;HP:0000268 ;HP:0000286 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000565 ;HP:0000846 ;HP:0001249 ;HP:0001250 ;HP:0001999 ;HP:0002007 ;HP:0003455 ;HP:0010696
chr22|18560689|18613905|ENSG00000215193.8|ENSG00000215193.8|PEX26|PEX26|Confirmed DD Gene|Biallelic|Loss of function|infantile Refsum disease (IRD)|10613|266510||HP:0000007 ;HP:0000272 ;HP:0000407 ;HP:0000457 ;HP:0000510 ;HP:0000512 ;HP:0000556 ;HP:0000939 ;HP:0000954 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001265 ;HP:0001271 ;HP:0001508 ;HP:0001892 ;HP:0001999 ;HP:0002240 ;HP:0002570 ;HP:0003146 ;HP:0003577 ;HP:0008167
chr22|18593097|18629321|ENSG00000183785.10|ENSG00000183785.10|TUBA8|TUBA8|Confirmed DD Gene|Biallelic|Loss of function|polymicrogyria with optic nerve hypoplasia (PMGONH)|10516|613180|19896110|HP:0000007 ;HP:0000252 ;HP:0000609 ;HP:0001250 ;HP:0001263 ;HP:0001265 ;HP:0001319 ;HP:0002126 ;HP:0002187 ;HP:0002365 ;HP:0003577
chr22|19744226|19771116|ENSG00000184058.8|ENSG00000184058.8|TBX1|TBX1|Confirmed DD Gene|Monoallelic|Loss of function|22q11.2 Deletion Syndrome|11086|188400|14585638|HP:0000006 ;HP:0000023 ;HP:0000110 ;HP:0000122 ;HP:0000126 ;HP:0000156 ;HP:0000175 ;HP:0000193 ;HP:0000316 ;HP:0000322 ;HP:0000347 ;HP:0000369 ;HP:0000370 ;HP:0000565 ;HP:0000577 ;HP:0000581 ;HP:0000627 ;HP:0000646 ;HP:0000647 ;HP:0000750 ;HP:0000777 ;HP:0000821 ;HP:0000860 ;HP:0001051 ;HP:0001061 ;HP:0001081 ;HP:0001250 ;HP:0001263 ;HP:0001281 ;HP:0001328 ;HP:0001513 ;HP:0001537 ;HP:0001611 ;HP:0001629 ;HP:0001636 ;HP:0001643 ;HP:0001660 ;HP:0002627 ;HP:0002650 ;HP:0002719 ;HP:0002901 ;HP:0004322 ;HP:0005435 ;HP:0007018 ;HP:0007302 ;HP:0008211 ;HP:0011611 ;HP:0100541 ;HP:0100753
chr22|20778874|20792146|ENSG00000244486.3|ENSG00000244486.3|SCARF2|SCARF2|Confirmed DD Gene|Biallelic|Loss of function|Van den Ende-Gupta syndrome|10737|600920|21108395|HP:0000007 ;HP:0000156 ;HP:0000175 ;HP:0000232 ;HP:0000272 ;HP:0000327 ;HP:0000412 ;HP:0000430 ;HP:0000460 ;HP:0000534 ;HP:0000581 ;HP:0000678 ;HP:0000767 ;HP:0000883 ;HP:0000895 ;HP:0001166 ;HP:0001195 ;HP:0001601 ;HP:0001762 ;HP:0001786 ;HP:0001822 ;HP:0001836 ;HP:0001847 ;HP:0002980 ;HP:0002987 ;HP:0003031 ;HP:0003083 ;HP:0003100 ;HP:0005033 ;HP:0005280 ;HP:0006236 ;HP:0006380 ;HP:0006633 ;HP:0009473 ;HP:0010307 ;HP:0010493
chr22|21213271|21245506|ENSG00000099940.7|ENSG00000099940.7|SNAP29|SNAP29|Probable DD gene|Biallelic|Loss of function|CEDNIK syndrome|11166|609528|21073448 ;15968592|HP:0000007 ;HP:0000253 ;HP:0000276 ;HP:0000316 ;HP:0000407 ;HP:0000431 ;HP:0000494 ;HP:0000982 ;HP:0001252 ;HP:0001263 ;HP:0001271 ;HP:0001273 ;HP:0001284 ;HP:0001302 ;HP:0001508 ;HP:0002421 ;HP:0002539 ;HP:0003593 ;HP:0005280 ;HP:0006887 ;HP:0007766 ;HP:0008064 ;HP:0009830 ;HP:0010864
chr22|24129150|24176703|ENSG00000099956.13|ENSG00000099956.13|SMARCB1|SMARCB1|Confirmed DD Gene|Monoallelic|Loss of function|Rhabdoid predisposition syndrome 1|10660|609322|10521299 ;10739763 ;9671307|HP:0000006 ;HP:0002885
chr22|24129150|24176703|ENSG00000099956.13|ENSG00000099956.13|SMARCB1|SMARCB1|Confirmed DD Gene|Monoallelic|Loss of function|?Coffin-Siris syndrome	|11184|135900||HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000086 ;HP:0000089 ;HP:0000126 ;HP:0000151 ;HP:0000154 ;HP:0000156 ;HP:0000175 ;HP:0000179 ;HP:0000252 ;HP:0000280 ;HP:0000365 ;HP:0000384 ;HP:0000453 ;HP:0000455 ;HP:0000483 ;HP:0000486 ;HP:0000508 ;HP:0000527 ;HP:0000545 ;HP:0000574 ;HP:0000601 ;HP:0000639 ;HP:0000684 ;HP:0000718 ;HP:0000729 ;HP:0000776 ;HP:0000879 ;HP:0000954 ;HP:0000960 ;HP:0000965 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001305 ;HP:0001338 ;HP:0001388 ;HP:0001511 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001643 ;HP:0002079 ;HP:0002205 ;HP:0002209 ;HP:0002219 ;HP:0002566 ;HP:0002576 ;HP:0002588 ;HP:0002592 ;HP:0002650 ;HP:0002673 ;HP:0002750 ;HP:0002808 ;HP:0003083 ;HP:0003298 ;HP:0004227 ;HP:0004322 ;HP:0005280 ;HP:0006498 ;HP:0006863 ;HP:0008398 ;HP:0008872 ;HP:0008897 ;HP:0009747 ;HP:0100391
chr22|24666786|24813708|ENSG00000100014.15|ENSG00000100014.15|SPECC1L|SPECC1L|Possible DD Gene|Monoallelic|All missense/in frame|Facial clefting, oblique, 1 |10143|600251||HP:0000007 ;HP:0000175 ;HP:0000204 ;HP:0000589 ;HP:0002006 ;HP:0006191
chr22|25595817|25603330|ENSG00000100053.5|ENSG00000100053.5|CRYBB3|CRYBB3|Confirmed DD Gene|Biallelic|Uncertain|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2|11201|609741|15914629; 15914629|HP:0000007 ;HP:0100018
chr22|25615489|25627836|ENSG00000244752.2|ENSG00000244752.2|CRYBB2|CRYBB2|Confirmed DD Gene|Monoallelic|Uncertain|CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2|11200|601547|8812489; 11424921|HP:0000006 ;HP:0007976
chr22|25615489|25627836|ENSG00000244752.2|ENSG00000244752.2|CRYBB2|CRYBB2|Confirmed DD Gene|Monoallelic|Loss of function|CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES|10304|607133||HP:0000006 ;HP:0010695
chr22|25615489|25627836|ENSG00000244752.2|ENSG00000244752.2|CRYBB2|CRYBB2|Confirmed DD Gene|Monoallelic|Loss of function|CATARACT, COPPOCK-LIKE; CCL|10305|604307||HP:0000006 ;HP:0008024
chr22|26995242|27014052|ENSG00000100122.5|ENSG00000100122.5|CRYBB1|CRYBB1|Confirmed DD Gene|Biallelic|Loss of function|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3|11107|611544|17460281 ;12360425; 17460281|HP:0000007 ;HP:0100018
chr22|27017928|27026636|ENSG00000196431.3|ENSG00000196431.3|CRYBA4|CRYBA4|Confirmed DD Gene|Monoallelic|Dominant negative|cataract zonular type 2 (CZ2)|10233|610425|15452067; 16960806|HP:0000006 ;HP:0007971
chr22|27017928|27026636|ENSG00000196431.3|ENSG00000196431.3|CRYBA4|CRYBA4|Confirmed DD Gene|Monoallelic|Dominant negative|Microphthalmia isolated with cataract type 4 (MCOPCT4)|10236|610426|16960806; 16960806|HP:0000006 ;HP:0000518 ;HP:0000568 ;HP:0000663
chr22|32149944|32303012|ENSG00000100150.12|ENSG00000100150.12|DEPDC5|DEPDC5|Confirmed DD Gene|Monoallelic|Loss of function|familial focal epilepsy with variable foci (FFEVF)|13540||23542701|
chr22|33558212|34318829|ENSG00000133424.16|ENSG00000133424.16|LARGE|LARGE|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with mental retardation type B6 (MDDGB6)|10433|608840|21248746 ;12966029|HP:0000007 ;HP:0000158 ;HP:0000654 ;HP:0000666 ;HP:0001252 ;HP:0001263 ;HP:0001270 ;HP:0001302 ;HP:0001321 ;HP:0001771 ;HP:0002187 ;HP:0002269 ;HP:0002365 ;HP:0002395 ;HP:0002518 ;HP:0002987 ;HP:0003236 ;HP:0003458 ;HP:0003487 ;HP:0003593 ;HP:0003701 ;HP:0003741 ;HP:0004322 ;HP:0009473 ;HP:0010628
chr22|33558212|34318829|ENSG00000133424.16|ENSG00000133424.16|LARGE|LARGE|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6)|10587|613154|19067344 ;19299310 ;17436019|HP:0000007 ;HP:0000238 ;HP:0000518 ;HP:0000648 ;HP:0001249 ;HP:0001284 ;HP:0001305 ;HP:0001371 ;HP:0003236 ;HP:0003560 ;HP:0006829 ;HP:0007260 ;HP:0007973
chr22|36677327|36784063|ENSG00000100345.16|ENSG00000100345.16|MYH9|MYH9|Possible DD Gene|Monoallelic|Loss of function| May-Hegglin anomaly (MHA) |10285|155100||HP:0000006 ;HP:0000132 ;HP:0000421 ;HP:0000978 ;HP:0001658 ;HP:0001873 ;HP:0001892 ;HP:0001902 ;HP:0001977 ;HP:0003010 ;HP:0008264
chr22|36677327|36784063|ENSG00000100345.16|ENSG00000100345.16|MYH9|MYH9|Possible DD Gene|Monoallelic|Uncertain|Sebastian syndrome (SBS)|11233|605249||HP:0000006 ;HP:0000421 ;HP:0001873 ;HP:0001902 ;HP:0003010 ;HP:0008264
chr22|36677327|36784063|ENSG00000100345.16|ENSG00000100345.16|MYH9|MYH9|Possible DD Gene|Monoallelic|Uncertain|Fechtner syndrome (FTNS)|11234|153640||HP:0000006 ;HP:0000093 ;HP:0000123 ;HP:0000132 ;HP:0000519 ;HP:0000790 ;HP:0000978 ;HP:0001757 ;HP:0001757 ;HP:0001873 ;HP:0001892 ;HP:0001902 ;HP:0003010 ;HP:0003774 ;HP:0008264
chr22|36677327|36784063|ENSG00000100345.16|ENSG00000100345.16|MYH9|MYH9|Possible DD Gene|Monoallelic|Uncertain|Epstein syndrome (EPS)|11235|153650||HP:0000006 ;HP:0000093 ;HP:0000123 ;HP:0000421 ;HP:0000518 ;HP:0000822 ;HP:0001757 ;HP:0001873 ;HP:0001902 ;HP:0002239 ;HP:0002907 ;HP:0003774 ;HP:0008619
chr22|36677327|36784063|ENSG00000100345.16|ENSG00000100345.16|MYH9|MYH9|Possible DD Gene|Monoallelic|Uncertain|deafness autosomal dominant type 17 (DFNA17) |11236|603622||HP:0000006 ;HP:0003621 ;HP:0005101
chr22|36677327|36784063|ENSG00000100345.16|ENSG00000100345.16|MYH9|MYH9|Possible DD Gene|Monoallelic|Loss of function|macrothrombocytopenia with progressive sensorineural deafness (MPSD) |10315|600208||HP:0000006 ;HP:0000079 ;HP:0000408 ;HP:0000478 ;HP:0000978 ;HP:0001873 ;HP:0001892 ;HP:0001902 ;HP:0003010
chr22|37461476|37505603|ENSG00000187045.12|ENSG00000187045.12|TMPRSS6|TMPRSS6|Confirmed DD Gene|Biallelic|Loss of function|Iron-refractory iron deficiency anemia|10811|206200|18408718 ;18596229 ;19592582 ;19357398|HP:0000007 ;HP:0001891 ;HP:0002024
chr22|38366693|38383429|ENSG00000100146.12|ENSG00000100146.12|SOX10|SOX10|Confirmed DD Gene|Monoallelic|Loss of function|Waardenburg syndrome type 2E (WS2E)|11386|611584|19208381 ;17999358 ;20478267 ;8911608 ;18627047 ;18348267 ;21965087|HP:0000006 ;HP:0000407 ;HP:0000635 ;HP:0000639 ;HP:0000767 ;HP:0000957 ;HP:0001053 ;HP:0001100 ;HP:0001107 ;HP:0001249 ;HP:0001263 ;HP:0001276 ;HP:0001425 ;HP:0002211 ;HP:0002216 ;HP:0002226 ;HP:0002227 ;HP:0003812 ;HP:0006808 ;HP:0007676 ;HP:0007894 ;HP:0008936 ;HP:0011379 ;HP:0011381 ;HP:0011382
chr22|38366693|38383429|ENSG00000100146.12|ENSG00000100146.12|SOX10|SOX10|Confirmed DD Gene|Monoallelic|Loss of function|Waardenburg syndrome type 4C (WS4C)|11146|613266|17999358 ;18348274 ;9462749 ;10077527|HP:0000006 ;HP:0000028 ;HP:0000135 ;HP:0000407 ;HP:0000635 ;HP:0001053 ;HP:0001100 ;HP:0001425 ;HP:0002211 ;HP:0002216 ;HP:0002226 ;HP:0002227 ;HP:0002251
chr22|38366693|38383429|ENSG00000100146.12|ENSG00000100146.12|SOX10|SOX10|Confirmed DD Gene|Monoallelic|Uncertain|Yemenite deaf-blind hypopigmentation syndrome (YDBHS)|11394|601706||HP:0000007 ;HP:0000482 ;HP:0000611 ;HP:0000612 ;HP:0000639 ;HP:0001595 ;HP:0007509 ;HP:0008625
chr22|38366693|38383429|ENSG00000100146.12|ENSG00000100146.12|SOX10|SOX10|Confirmed DD Gene|Monoallelic|Dominant negative|peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH)|10267|609136|12447940 ;10482261 ;11026454 ;10762540 ;19764030|HP:0000006 ;HP:0000028 ;HP:0000407 ;HP:0000458 ;HP:0000522 ;HP:0000639 ;HP:0000762 ;HP:0001053 ;HP:0001100 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001265 ;HP:0001284 ;HP:0001319 ;HP:0001761 ;HP:0002211 ;HP:0002226 ;HP:0002227 ;HP:0002271 ;HP:0002313 ;HP:0002460 ;HP:0002510 ;HP:0002936 ;HP:0003693 ;HP:0004336 ;HP:0004463 ;HP:0006978 ;HP:0007108 ;HP:0007182 ;HP:0007266 ;HP:0011096 ;HP:0011285 ;HP:0011382
chr22|38366693|38383429|ENSG00000100146.12|ENSG00000100146.12|SOX10|SOX10|Confirmed DD Gene|Monoallelic|Loss of function|Kallmann Syndrome with Deafness|13543||23643381|
chr22|38507502|38601697|ENSG00000184381.14|ENSG00000184381.14|PLA2G6|PLA2G6|Both DD and IF|Biallelic|Loss of function|Infantile neuroaxonal dystrophy 1|10784|256600||HP:0000007 ;HP:0000347 ;HP:0000365 ;HP:0000486 ;HP:0000572 ;HP:0000639 ;HP:0000648 ;HP:0000649 ;HP:0000762 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001272 ;HP:0001284 ;HP:0001347 ;HP:0001939 ;HP:0002007 ;HP:0002059 ;HP:0002062 ;HP:0002171 ;HP:0002180 ;HP:0002317 ;HP:0002376 ;HP:0002510 ;HP:0002529 ;HP:0003196 ;HP:0003324 ;HP:0003444 ;HP:0003593 ;HP:0011220
chr22|38507502|38601697|ENSG00000184381.14|ENSG00000184381.14|PLA2G6|PLA2G6|Both DD and IF|Biallelic|Loss of function|Neurodegeneration with brain iron accumulation 2B|10874|610217||HP:0000007 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000736 ;HP:0000750 ;HP:0000752 ;HP:0001250 ;HP:0001257 ;HP:0001260 ;HP:0001268 ;HP:0001272 ;HP:0001310 ;HP:0001332 ;HP:0001884 ;HP:0002015 ;HP:0002059 ;HP:0002066 ;HP:0002067 ;HP:0002072 ;HP:0002075 ;HP:0002080 ;HP:0002185 ;HP:0003487 ;HP:0003676 ;HP:0003812 ;HP:0007772 ;HP:0011968 ;HP:0100710
chr22|40742507|40786467|ENSG00000239900.7|ENSG00000239900.7|ADSL|ADSL|Confirmed DD Gene|Biallelic|Uncertain|adenylosuccinase deficiency (ADSL deficiency)|11273|103050|18830228 ;6150139 ;10090474 ;12016589 ;9545543|HP:0000007 ;HP:0000154 ;HP:0000219 ;HP:0000248 ;HP:0000252 ;HP:0000319 ;HP:0000343 ;HP:0000369 ;HP:0000463 ;HP:0000486 ;HP:0000639 ;HP:0000717 ;HP:0000718 ;HP:0000742 ;HP:0000748 ;HP:0000750 ;HP:0000752 ;HP:0000817 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001272 ;HP:0001336 ;HP:0001348 ;HP:0001510 ;HP:0002059 ;HP:0002066 ;HP:0002179 ;HP:0002540 ;HP:0003196 ;HP:0003202 ;HP:0003429 ;HP:0003593 ;HP:0005487 ;HP:0006808 ;HP:0011344 ;HP:0200086
chr22|41253081|41363838|ENSG00000196236.8|ENSG00000196236.8|XPNPEP3|XPNPEP3|Possible DD Gene|Biallelic|Loss of function|nephronophthisis-like nephropathy type 1 (NPHPL1)|10533|613159||HP:0000007 ;HP:0000090 ;HP:0000092 ;HP:0000108 ;HP:0000822 ;HP:0001249 ;HP:0001250 ;HP:0001737 ;HP:0003774 ;HP:0005583 ;HP:0006280 ;HP:0100702
chr22|41487790|41576081|ENSG00000100393.9|ENSG00000100393.9|EP300|EP300|Confirmed DD Gene|Monoallelic|Loss of function|Rubinstein-Taybi syndrome type 2 (RSTS2)|10377|613684|20014264 ;19353645 ;15706485 ;17299436|HP:0000006 ;HP:0000156 ;HP:0000252 ;HP:0000278 ;HP:0000347 ;HP:0000448 ;HP:0000527 ;HP:0000670 ;HP:0000689 ;HP:0000750 ;HP:0001256 ;HP:0001263 ;HP:0003577 ;HP:0010055 ;HP:0011094 ;HP:0011304
chr22|41865129|41924993|ENSG00000100412.11|ENSG00000100412.11|ACO2|ACO2|Probable DD gene|Biallelic|Loss of function|Infantile cerebellar-retinal degeneration	|11177|614559|22405087|HP:0000007 ;HP:0000253 ;HP:0000407 ;HP:0000486 ;HP:0000556 ;HP:0000639 ;HP:0000648 ;HP:0001250 ;HP:0001251 ;HP:0001265 ;HP:0001272 ;HP:0001284 ;HP:0001508 ;HP:0002120 ;HP:0002305 ;HP:0002319 ;HP:0007108 ;HP:0010864 ;HP:0011344
chr22|42454358|42466846|ENSG00000198951.7|ENSG00000198951.7|NAGA|NAGA|Confirmed DD Gene|Biallelic|Loss of function|Schindler disease (SCHIND)|10456|609241|8071745 ;2243144|HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0000648 ;HP:0000938 ;HP:0001250 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001336 ;HP:0001347 ;HP:0002376 ;HP:0003461 ;HP:0003593 ;HP:0003700 ;HP:0010864 ;HP:0100704
chr22|42454358|42466846|ENSG00000198951.7|ENSG00000198951.7|NAGA|NAGA|Confirmed DD Gene|Biallelic|Loss of function|Kanzaki disease (KANZD)|10596|609242|2564952 ;8782044 ;11251574|HP:0000007 ;HP:0000179 ;HP:0000214 ;HP:0000280 ;HP:0000407 ;HP:0000478 ;HP:0000958 ;HP:0000962 ;HP:0001004 ;HP:0001071 ;HP:0001256 ;HP:0002059 ;HP:0002321 ;HP:0002460 ;HP:0002936 ;HP:0003355 ;HP:0003409 ;HP:0003461 ;HP:0003477 ;HP:0003581 ;HP:0005280 ;HP:0006812 ;HP:0007428
chr22|43013846|43045574|ENSG00000100243.16|ENSG00000100243.16|CYB5R3|CYB5R3|Probable DD gene|Biallelic|Loss of function|Methemoglobinemia Due to Deficiency of Methemoglobin Reductase|12085|319395||
chr22|45898118|45997015|ENSG00000077942.13|ENSG00000077942.13|FBLN1|FBLN1|Possible DD Gene|Uncertain|Uncertain|FIBULIN 1; FBLN1|11250|135820||
chr22|50293877|50312106|ENSG00000182858.9|ENSG00000182858.9|ALG12|ALG12|Confirmed DD Gene|Biallelic|Loss of function|congenital disorder of glycosylation type 1G (CDG1G)|10875|607143|11983712 ;12217961 ;12093361|
chr22|50497820|50524331|ENSG00000100427.11|ENSG00000100427.11|MLC1|MLC1|Confirmed DD Gene|Biallelic|Loss of function|leukoencephalopathy megalencephalic with subcortical cysts (MLC)|10449|604004|12189496 ;11935341 ;11254442 ;21624973 ;14615938|HP:0000007 ;HP:0001250 ;HP:0001251 ;HP:0001256 ;HP:0001257 ;HP:0001270 ;HP:0001355 ;HP:0003593 ;HP:0006943 ;HP:0007341
chr22|50656118|50683421|ENSG00000128159.7|ENSG00000128159.7|TUBGCP6|TUBGCP6|Possible DD Gene|Biallelic|Uncertain|Microcephaly and chorioretinopathy with or without mental retardation|13449|251270|22279524|HP:0000007 ;HP:0000252 ;HP:0000518 ;HP:0000543 ;HP:0000568 ;HP:0000639 ;HP:0001000 ;HP:0001145 ;HP:0001249 ;HP:0007703
chr22|50961997|50964868|ENSG00000130489.8|ENSG00000130489.8|SCO2|SCO2|Confirmed DD Gene|Biallelic|Loss of function|Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency|13068|604377|10749987 ;10545952 ;14994243 ;18924171; 10545952|HP:0000007 ;HP:0001252 ;HP:0001263 ;HP:0001522 ;HP:0001639 ;HP:0002151 ;HP:0002171 ;HP:0002490 ;HP:0002529 ;HP:0002880 ;HP:0003128 ;HP:0003577 ;HP:0007941 ;HP:0008872
chr22|51061182|51066607|ENSG00000100299.13|ENSG00000100299.13|ARSA|ARSA|Confirmed DD Gene|Biallelic|Loss of function|Arylsulfatase A Deficiency|11840|250100|7906588 ;7815433 ;1676699 ;11456299 ;11061266 ;1684088 ;1678251 ;2574462 ;7866401 ;9600244 ;8104633 ;8101083 ;7909527 ;7902317 ;7981715 ;1353340 ;1673291 ;8101038 ;12788103 ;7833949 ;1670590 ;11941485 ;7858169|HP:0000007 ;HP:0000020 ;HP:0000648 ;HP:0000712 ;HP:0000738 ;HP:0000746 ;HP:0000762 ;HP:0001082 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001260 ;HP:0001265 ;HP:0001268 ;HP:0001283 ;HP:0001288 ;HP:0001332 ;HP:0001347 ;HP:0002072 ;HP:0002371 ;HP:0002445 ;HP:0002500 ;HP:0002510 ;HP:0002922 ;HP:0003445 ;HP:0003487 ;HP:0005609 ;HP:0007133 ;HP:0011096
chr22|51112843|51171726|ENSG00000251322.3|ENSG00000251322.3|SHANK3|SHANK3|Probable DD gene|Monoallelic|Loss of function|Phelan-McDermid syndrome|10796|606232|22892527 ;17173049|HP:0000076 ;HP:0000098 ;HP:0000113 ;HP:0000156 ;HP:0000164 ;HP:0000252 ;HP:0000256 ;HP:0000268 ;HP:0000272 ;HP:0000286 ;HP:0000293 ;HP:0000307 ;HP:0000331 ;HP:0000343 ;HP:0000365 ;HP:0000400 ;HP:0000412 ;HP:0000414 ;HP:0000431 ;HP:0000486 ;HP:0000490 ;HP:0000508 ;HP:0000527 ;HP:0000574 ;HP:0000689 ;HP:0000710 ;HP:0000717 ;HP:0000718 ;HP:0000750 ;HP:0000817 ;HP:0000960 ;HP:0000966 ;HP:0001004 ;HP:0001176 ;HP:0001250 ;HP:0001263 ;HP:0001265 ;HP:0001270 ;HP:0001290 ;HP:0001319 ;HP:0001629 ;HP:0001643 ;HP:0001800 ;HP:0002020 ;HP:0002046 ;HP:0002119 ;HP:0002136 ;HP:0002188 ;HP:0002317 ;HP:0002342 ;HP:0002518 ;HP:0002572 ;HP:0003745 ;HP:0003763 ;HP:0004209 ;HP:0004691 ;HP:0007328 ;HP:0011120 ;HP:0011968 ;HP:0100540 ;HP:0100658 ;HP:0100702 ;HP:0100703 ;HP:0100704 ;HP:0100797
chrX|585079|620146|ENSG00000185960.8|ENSG00000185960.8|SHOX|SHOX|Confirmed DD Gene|Monoallelic|Loss of function|Leri-Weill dyschondrosteosis (LWD)|10932|127300|21712857 ;15356038 ;11030412 ;11403039 ;9590293|HP:0000006 ;HP:0000156 ;HP:0001191 ;HP:0001831 ;HP:0001832 ;HP:0002650 ;HP:0002673 ;HP:0002762 ;HP:0002982 ;HP:0002984 ;HP:0002986 ;HP:0002996 ;HP:0003022 ;HP:0003027 ;HP:0003038 ;HP:0003063 ;HP:0003067 ;HP:0003102 ;HP:0003712 ;HP:0005736 ;HP:0006248 ;HP:0006459 ;HP:0008873 ;HP:0010044
chrX|585079|620146|ENSG00000185960.8|ENSG00000185960.8|SHOX|SHOX|Confirmed DD Gene|Biallelic|Loss of function|Langer mesomelic dysplasia (LMD)|10933|249700|9590292 ;17935511 ;11889214 ;12116254|HP:0000007 ;HP:0000347 ;HP:0002938 ;HP:0002984 ;HP:0002986 ;HP:0003022 ;HP:0003027 ;HP:0003067 ;HP:0006381 ;HP:0006436 ;HP:0008845 ;HP:0100864 ;HP:0200081
chrX|2852699|2886286|ENSG00000157399.10|ENSG00000157399.10|ARSE|ARSE|Confirmed DD Gene|Hemizygous|Loss of function|Chondrodysplasia Punctata 1, X-Linked|11841|302950|12567415 ;7720070 ;9409863|HP:0000135 ;HP:0000252 ;HP:0000365 ;HP:0000420 ;HP:0000458 ;HP:0000518 ;HP:0000925 ;HP:0001263 ;HP:0001419 ;HP:0003196 ;HP:0004322 ;HP:0005280 ;HP:0008064 ;HP:0009882 ;HP:0010655
chrX|5758678|6146904|ENSG00000146938.10|ENSG00000146938.10|NLGN4X|NLGN4X|Possible DD Gene|Hemizygous|Loss of function|susceptibility to autism X-linked type 2 (AUTSX2)|10462|300495||HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001417 ;HP:0001426 ;HP:0002332 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0005324 ;HP:0011463
chrX|7137497|7272851|ENSG00000101846.6|ENSG00000101846.6|STS|STS|Confirmed DD Gene|Hemizygous|Loss of function|Ichthyosis, X-Linked|13188|308100|9252398 ;1539590 ;3032454|HP:0000028 ;HP:0000135 ;HP:0001249 ;HP:0001419 ;HP:0001939 ;HP:0002664 ;HP:0007431 ;HP:0007759 ;HP:0008064
chrX|10125024|10205700|ENSG00000073464.7|ENSG00000073464.7|CLCN4|CLCN4|Possible DD Gene|Monoallelic|All missense/in frame|Infantile epileptic encephalopathy|13701||23647072|
chrX|10413350|10851773|ENSG00000101871.10|ENSG00000101871.10|MID1|MID1|Confirmed DD Gene|Hemizygous|Loss of function|Opitz G/BBB Syndrome, X-Linked|11049|300000|17221865 ;15558842 ;12545276|HP:0000028 ;HP:0000047 ;HP:0000156 ;HP:0000175 ;HP:0000204 ;HP:0000219 ;HP:0000316 ;HP:0000319 ;HP:0000349 ;HP:0000431 ;HP:0000463 ;HP:0000506 ;HP:0001263 ;HP:0001274 ;HP:0001419 ;HP:0001739 ;HP:0002007 ;HP:0002015 ;HP:0002020 ;HP:0002023 ;HP:0002564 ;HP:0002835 ;HP:0006783 ;HP:0011220 ;HP:0200086
chrX|11129421|11141198|ENSG00000004961.10|ENSG00000004961.10|HCCS|HCCS|Confirmed DD Gene|X-linked dominant|Loss of function|microphthalmia syndromic type 7 (MCOPS7)|11110|309801|17033964|HP:0000013 ;HP:0000041 ;HP:0000047 ;HP:0000054 ;HP:0000238 ;HP:0000252 ;HP:0000365 ;HP:0000518 ;HP:0000568 ;HP:0000580 ;HP:0000612 ;HP:0000647 ;HP:0000776 ;HP:0001250 ;HP:0001274 ;HP:0001331 ;HP:0001423 ;HP:0001545 ;HP:0001629 ;HP:0001631 ;HP:0001939 ;HP:0002023 ;HP:0002623 ;HP:0004322 ;HP:0005152 ;HP:0006887 ;HP:0007398 ;HP:0008665 ;HP:0011675
chrX|13730363|13752754|ENSG00000196459.9|ENSG00000196459.9|TRAPPC2|TRAPPC2|Confirmed DD Gene|Hemizygous|Loss of function|spondyloepiphyseal dysplasia tarda (SEDT)|10938|313400||HP:0000470 ;HP:0000926 ;HP:0001376 ;HP:0001419 ;HP:0001552 ;HP:0002650 ;HP:0002655 ;HP:0002808 ;HP:0002812 ;HP:0002829 ;HP:0002866 ;HP:0002938 ;HP:0003090 ;HP:0003521 ;HP:0004594 ;HP:0007759 ;HP:0008843 ;HP:0010582 ;HP:0100864
chrX|13752832|13787480|ENSG00000046651.10|ENSG00000046651.10|OFD1|OFD1|Confirmed DD Gene|X-linked dominant|Loss of function|oral-facial-digital syndrome type 1 (OFD1)|10467|311200|11179005 ;15221448 ;9482645 ;11950863 ;9198060|HP:0000093 ;HP:0000113 ;HP:0000138 ;HP:0000156 ;HP:0000161 ;HP:0000175 ;HP:0000180 ;HP:0000199 ;HP:0000238 ;HP:0000252 ;HP:0000286 ;HP:0000308 ;HP:0000316 ;HP:0000324 ;HP:0000365 ;HP:0000369 ;HP:0000430 ;HP:0000431 ;HP:0000494 ;HP:0000506 ;HP:0000670 ;HP:0000822 ;HP:0001056 ;HP:0001156 ;HP:0001159 ;HP:0001249 ;HP:0001250 ;HP:0001274 ;HP:0001317 ;HP:0001395 ;HP:0001407 ;HP:0001423 ;HP:0001596 ;HP:0001627 ;HP:0001737 ;HP:0001780 ;HP:0002007 ;HP:0002132 ;HP:0002281 ;HP:0002444 ;HP:0002536 ;HP:0003577 ;HP:0004322 ;HP:0006297 ;HP:0006349 ;HP:0008070 ;HP:0009085 ;HP:0009466 ;HP:0010297 ;HP:0010442 ;HP:0011069 ;HP:0100702
chrX|13752832|13787480|ENSG00000046651.10|ENSG00000046651.10|OFD1|OFD1|Confirmed DD Gene|Hemizygous|Loss of function|Simpson-Golabi-Behmel syndrome type 2|10603|300209|16783569|HP:0000003 ;HP:0000023 ;HP:0000054 ;HP:0000154 ;HP:0000156 ;HP:0000175 ;HP:0000219 ;HP:0000256 ;HP:0000268 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000358 ;HP:0000369 ;HP:0000445 ;HP:0000463 ;HP:0000470 ;HP:0000474 ;HP:0000954 ;HP:0000996 ;HP:0001169 ;HP:0001182 ;HP:0001252 ;HP:0001374 ;HP:0001419 ;HP:0001547 ;HP:0001762 ;HP:0001792 ;HP:0002002 ;HP:0002090 ;HP:0002788 ;HP:0003196 ;HP:0006610 ;HP:0006801 ;HP:0006887 ;HP:0009381 ;HP:0009466 ;HP:0010806 ;HP:0010864 ;HP:0200086
chrX|13752832|13787480|ENSG00000046651.10|ENSG00000046651.10|OFD1|OFD1|Confirmed DD Gene|Hemizygous|Loss of function|Joubert syndrome type 10 (JBTS10)|10604|300804|19800048 ;22353940|HP:0000369 ;HP:0000431 ;HP:0000510 ;HP:0001249 ;HP:0001419 ;HP:0001510 ;HP:0002002 ;HP:0002419 ;HP:0002719 ;HP:0008872 ;HP:0100259
chrX|14861529|14891191|ENSG00000181544.9|ENSG00000181544.9|FANCB|FANCB|Confirmed DD Gene|Hemizygous|Loss of function|FANCB-Related Fanconi Anemia|11032|229139||
chrX|15337573|15353676|ENSG00000165195.9|ENSG00000165195.9|PIGA|PIGA|Possible DD Gene|Hemizygous|Loss of function|MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2|10705|300868||HP:0000076 ;HP:0000081 ;HP:0000156 ;HP:0000160 ;HP:0000207 ;HP:0000239 ;HP:0000256 ;HP:0000269 ;HP:0000272 ;HP:0000347 ;HP:0000396 ;HP:0000463 ;HP:0000470 ;HP:0000582 ;HP:0001321 ;HP:0001331 ;HP:0001341 ;HP:0001347 ;HP:0001371 ;HP:0001419 ;HP:0001520 ;HP:0001522 ;HP:0001631 ;HP:0001792 ;HP:0002123 ;HP:0002319 ;HP:0002714 ;HP:0003155 ;HP:0003517 ;HP:0005280 ;HP:0007361 ;HP:0011398
chrX|15843929|15873054|ENSG00000182287.9|ENSG00000182287.9|AP1S2|AP1S2|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 59 (MRX59)|10327|300630|10398241 ;5054319 ;17617514 ;17186471 ;12599187|
chrX|17393543|17754114|ENSG00000188158.10|ENSG00000188158.10|NHS|NHS|Confirmed DD Gene|Hemizygous|Loss of function|Nance-Horan syndrome (NHS)|10286|302350|14564667 ;15623749 ;458526 ;2246772|HP:0000275 ;HP:0000276 ;HP:0000400 ;HP:0000426 ;HP:0000448 ;HP:0000482 ;HP:0000501 ;HP:0000519 ;HP:0000568 ;HP:0000572 ;HP:0000639 ;HP:0000699 ;HP:0000717 ;HP:0001423 ;HP:0001500 ;HP:0002342 ;HP:0006332 ;HP:0006346 ;HP:0008031 ;HP:0009803
chrX|17393543|17754114|ENSG00000188158.10|ENSG00000188158.10|NHS|NHS|Confirmed DD Gene|Hemizygous|Loss of function|cataract congenital X-linked (CXN)|10316|302200|19414485 ;11836358|HP:0001141 ;HP:0001417 ;HP:0007672
chrX|18443703|18671749|ENSG00000008086.6|ENSG00000008086.6|CDKL5|CDKL5|Confirmed DD Gene|X-linked dominant|Loss of function|epileptic encephalopathy early infantile type 2 (EIEE2)|10355|300672|16611748 ;18809835 ;16813600 ;19793311 ;17993579 ;19241098 ;19396824 ;15689447 ;15499549 ;15492925|HP:0000253 ;HP:0000733 ;HP:0000817 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001336 ;HP:0001423 ;HP:0001773 ;HP:0002187 ;HP:0002376 ;HP:0002521 ;HP:0002540 ;HP:0002650 ;HP:0002883 ;HP:0003593 ;HP:0004279 ;HP:0200055
chrX|19362011|19379823|ENSG00000131828.9|ENSG00000131828.9|PDHA1|PDHA1|Confirmed DD Gene|Monoallelic|Loss of function|Pyruvate Dehydrogenase E1-Alpha Deficiency in females|11062|312170|1907799 ;8199595 ;1293379 ;2378353 ;9686362 ;2537010 ;1909401 ;1909778 ;3137520 ;10486093 ;8032855 ;12379317 ;8771169 ;7573035|HP:0000252 ;HP:0000343 ;HP:0000431 ;HP:0000454 ;HP:0000463 ;HP:0000496 ;HP:0000508 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001266 ;HP:0001274 ;HP:0001332 ;HP:0001423 ;HP:0001518 ;HP:0001999 ;HP:0002007 ;HP:0002059 ;HP:0002119 ;HP:0002131 ;HP:0002151 ;HP:0002490 ;HP:0002872 ;HP:0002928 ;HP:0003348 ;HP:0003593 ;HP:0003812 ;HP:0004900 ;HP:0004925 ;HP:0006799
chrX|19362011|19379823|ENSG00000131828.9|ENSG00000131828.9|PDHA1|PDHA1|Confirmed DD Gene|Hemizygous|All missense/in frame|X-Linked Leigh Syndrome|10203|312170|1907799 ;8199595 ;1293379 ;2378353 ;9686362 ;2537010 ;1909401 ;1909778 ;3137520 ;10486093 ;8032855 ;12379317 ;8771169 ;7573035|HP:0000252 ;HP:0000343 ;HP:0000431 ;HP:0000454 ;HP:0000463 ;HP:0000496 ;HP:0000508 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001266 ;HP:0001274 ;HP:0001332 ;HP:0001423 ;HP:0001518 ;HP:0001999 ;HP:0002007 ;HP:0002059 ;HP:0002119 ;HP:0002131 ;HP:0002151 ;HP:0002490 ;HP:0002872 ;HP:0002928 ;HP:0003348 ;HP:0003593 ;HP:0003812 ;HP:0004900 ;HP:0004925 ;HP:0006799
chrX|19362011|19379823|ENSG00000131828.9|ENSG00000131828.9|PDHA1|PDHA1|Confirmed DD Gene|Uncertain|Loss of function|Intellectual disabiltiy|13623|||
chrX|20168029|20285523|ENSG00000177189.8|ENSG00000177189.8|RPS6KA3|RPS6KA3|Confirmed DD Gene|Hemizygous|Loss of function|Coffin-Lowry syndrome (CLS)|10429|303600|10094187 ;15214012 ;12558110 ;9837815 ;9887375 ;10528858 ;17717706 ;14986828 ;12439904 ;8955270 ;11992250|HP:0000023 ;HP:0000139 ;HP:0000189 ;HP:0000194 ;HP:0000218 ;HP:0000232 ;HP:0000252 ;HP:0000280 ;HP:0000303 ;HP:0000316 ;HP:0000407 ;HP:0000412 ;HP:0000445 ;HP:0000463 ;HP:0000494 ;HP:0000506 ;HP:0000574 ;HP:0000668 ;HP:0000687 ;HP:0000689 ;HP:0000767 ;HP:0000768 ;HP:0000954 ;HP:0000965 ;HP:0000973 ;HP:0001169 ;HP:0001182 ;HP:0001187 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001423 ;HP:0001476 ;HP:0001653 ;HP:0001763 ;HP:0001812 ;HP:0002035 ;HP:0002119 ;HP:0002208 ;HP:0002553 ;HP:0002650 ;HP:0002673 ;HP:0002684 ;HP:0002750 ;HP:0002808 ;HP:0002868 ;HP:0004322 ;HP:0004325 ;HP:0006129 ;HP:0008454 ;HP:0009746 ;HP:0010049 ;HP:0010309
chrX|21958691|22025798|ENSG00000102172.11|ENSG00000102172.11|SMS|SMS|Probable DD gene|Hemizygous|Loss of function|Snyder-Robinson syndrome (SRS)|10512|309583|19206178 ;18550699 ;5823961|HP:0000028 ;HP:0000098 ;HP:0000175 ;HP:0000179 ;HP:0000193 ;HP:0000303 ;HP:0000316 ;HP:0000322 ;HP:0000324 ;HP:0000377 ;HP:0000465 ;HP:0000678 ;HP:0000767 ;HP:0000768 ;HP:0000939 ;HP:0001187 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001260 ;HP:0001419 ;HP:0001611 ;HP:0001762 ;HP:0001847 ;HP:0002136 ;HP:0002705 ;HP:0002751 ;HP:0002757 ;HP:0003199 ;HP:0003812 ;HP:0004283 ;HP:0004322 ;HP:0006610 ;HP:0011003 ;HP:0011302 ;HP:0100807
chrX|23352133|23422489|ENSG00000165186.9|ENSG00000165186.9|PTCHD1|PTCHD1|Confirmed DD Gene|Hemizygous|Loss of function|Autism/ID|12922|300830|20844286|
chrX|25021811|25034065|ENSG00000004848.6|ENSG00000004848.6|ARX|ARX|Confirmed DD Gene|Hemizygous|Loss of function|lissencephaly X-linked type 2 (LISX2)|10332|300215|11891829 ;14722918 ;12379852|HP:0000054 ;HP:0000062 ;HP:0000156 ;HP:0000219 ;HP:0000260 ;HP:0000343 ;HP:0000347 ;HP:0000348 ;HP:0000369 ;HP:0000426 ;HP:0000431 ;HP:0001250 ;HP:0001252 ;HP:0001257 ;HP:0001274 ;HP:0001302 ;HP:0001328 ;HP:0001339 ;HP:0001347 ;HP:0001417 ;HP:0002014 ;HP:0002119 ;HP:0002171 ;HP:0008734 ;HP:0008872 ;HP:0009921 ;HP:0011341 ;HP:0011344 ;HP:0200086
chrX|25021811|25034065|ENSG00000004848.6|ENSG00000004848.6|ARX|ARX|Confirmed DD Gene|Hemizygous|Loss of function|epileptic encephalopathy early infantile type 1 (EIEE1)|10541|308350|19738637 ;21108397 ;17668384 ;19606478 ;12177367 ;11889467 ;10353782 ;18462864|HP:0000252 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001266 ;HP:0001332 ;HP:0001347 ;HP:0001419 ;HP:0002015 ;HP:0002094 ;HP:0002119 ;HP:0002123 ;HP:0002521 ;HP:0008936
chrX|25021811|25034065|ENSG00000004848.6|ENSG00000004848.6|ARX|ARX|Confirmed DD Gene|Hemizygous|Uncertain|Partington syndrome (PRTS)|11298|309510||HP:0000325 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001260 ;HP:0001371 ;HP:0001419 ;HP:0002061 ;HP:0002353 ;HP:0002451 ;HP:0004373
chrX|25021811|25034065|ENSG00000004848.6|ENSG00000004848.6|ARX|ARX|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked ARX-related (MRXARX)|10542|300419|11971879 ;21204226|HP:0001249 ;HP:0001419
chrX|25021811|25034065|ENSG00000004848.6|ENSG00000004848.6|ARX|ARX|Confirmed DD Gene|Hemizygous|Loss of function|agenesis of the corpus callosum with abnormal genitalia (ACCAG)|10543|300004|1605226|HP:0000028 ;HP:0000047 ;HP:0000110 ;HP:0000156 ;HP:0000187 ;HP:0000252 ;HP:0000280 ;HP:0000294 ;HP:0000336 ;HP:0000412 ;HP:0000486 ;HP:0000505 ;HP:0000639 ;HP:0000648 ;HP:0000664 ;HP:0001007 ;HP:0001090 ;HP:0001182 ;HP:0001250 ;HP:0001263 ;HP:0001274 ;HP:0001274 ;HP:0001319 ;HP:0001417 ;HP:0001795 ;HP:0001845 ;HP:0002445 ;HP:0002510 ;HP:0002650 ;HP:0003121 ;HP:0004322 ;HP:0006887 ;HP:0010864
chrX|28605516|29974840|ENSG00000169306.5|ENSG00000169306.5|IL1RAPL1|IL1RAPL1|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 21 (MRX21)|10421|300143|10471494 ;19012350 ;18801879 ;16470793|HP:0000194 ;HP:0000303 ;HP:0000316 ;HP:0000582 ;HP:0000664 ;HP:0000678 ;HP:0000717 ;HP:0000752 ;HP:0001250 ;HP:0001382 ;HP:0001419 ;HP:0002342 ;HP:0003196 ;HP:0009909 ;HP:0010804
chrX|30671476|30748725|ENSG00000198814.8|ENSG00000198814.8|GK|GK|Both DD and IF|Hemizygous|Loss of function|Glycerol Kinase Deficiency|12337|307030||HP:0000028 ;HP:0000316 ;HP:0000369 ;HP:0000565 ;HP:0000846 ;HP:0000939 ;HP:0001249 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001419 ;HP:0001423 ;HP:0001518 ;HP:0001942 ;HP:0001943 ;HP:0001993 ;HP:0001999 ;HP:0002007 ;HP:0002155 ;HP:0002572 ;HP:0002714 ;HP:0002756 ;HP:0003198 ;HP:0003560 ;HP:0004322 ;HP:0008182
chrX|31115794|33357558|ENSG00000198947.10|ENSG00000198947.10|DMD|DMD|Confirmed DD Gene|Hemizygous|Loss of function|Duchenne muscular dystrophy (DMD)|10373|310200|2071150 ;15643612 ;1513469 ;1601417 ;8301652 ;7881286 ;8281150 ;8817332 ;10909857 ;1307253 ;8401582 ;8499922 ;8364587 ;1383546 ;1549596 ;7951253 ;8401539 ;7981590 ;12794683 ;17024373 ;7581396 ;12673664 ;8199594 ;1301174|HP:0001252 ;HP:0001256 ;HP:0001265 ;HP:0001371 ;HP:0001419 ;HP:0001635 ;HP:0001644 ;HP:0002093 ;HP:0002515 ;HP:0002650 ;HP:0002791 ;HP:0003236 ;HP:0003307 ;HP:0003391 ;HP:0003560 ;HP:0003707 ;HP:0011463 ;HP:0011675
chrX|31115794|33357558|ENSG00000198947.10|ENSG00000198947.10|DMD|DMD|Confirmed DD Gene|Hemizygous|Loss of function|Becker muscular dystrophy (BMD)|10557|300376|1757094 ;12632325 ;8279470 ;1632439 ;8301652 ;7881286 ;8401537 ;7951253 ;9410897 ;12754707 ;12522557|HP:0001265 ;HP:0001324 ;HP:0001419 ;HP:0001638 ;HP:0003236 ;HP:0003326 ;HP:0003581 ;HP:0003707 ;HP:0011675
chrX|31115794|33357558|ENSG00000198947.10|ENSG00000198947.10|DMD|DMD|Confirmed DD Gene|Hemizygous|Loss of function|cardiomyopathy dilated X-linked type 3B (CMD3B)|10558|302045|9683584 ;8789442 ;8361506 ;9170407|HP:0001417 ;HP:0001644
chrX|38211798|38280703|ENSG00000036473.6|ENSG00000036473.6|OTC|OTC|Confirmed DD Gene|Hemizygous|Loss of function|Ornithine Transcarbamylase Deficiency|11060|311250|10405441 ;2035531 ;1353535 ;2347583 ;7860064 ;2037279 ;1721894 ;9056557 ;2843770 ;3170748 ;11260212 ;1480464|HP:0000737 ;HP:0001249 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001297 ;HP:0001419 ;HP:0001508 ;HP:0001950 ;HP:0001951 ;HP:0001987 ;HP:0002013 ;HP:0002038 ;HP:0002131 ;HP:0002181 ;HP:0003217 ;HP:0003572
chrX|38420623|38548169|ENSG00000156298.8|ENSG00000156298.8|TSPAN7|TSPAN7|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 58|10526|300210|10449641 ;10655063|HP:0001256 ;HP:0001417
chrX|39909068|40036582|ENSG00000183337.12|ENSG00000183337.12|BCOR|BCOR|Confirmed DD Gene|X-linked dominant|Loss of function|Microphthalmia syndromic type 2 (MCOPS2)|10272|300166|15770227 ;15004558 ;15957158; 19367324|HP:0000176 ;HP:0000193 ;HP:0000275 ;HP:0000276 ;HP:0000343 ;HP:0000407 ;HP:0000426 ;HP:0000455 ;HP:0000456 ;HP:0000482 ;HP:0000501 ;HP:0000508 ;HP:0000519 ;HP:0000568 ;HP:0000572 ;HP:0000574 ;HP:0000577 ;HP:0000581 ;HP:0000677 ;HP:0000684 ;HP:0000689 ;HP:0001153 ;HP:0001256 ;HP:0001423 ;HP:0001629 ;HP:0001631 ;HP:0001634 ;HP:0001765 ;HP:0004322 ;HP:0004691 ;HP:0006335 ;HP:0007733 ;HP:0007968 ;HP:0011069 ;HP:0011090
chrX|40440146|40465889|ENSG00000182220.9|ENSG00000182220.9|ATP6AP2|ATP6AP2|Possible DD Gene|Hemizygous|Uncertain|mental retardation X-linked with epilepsy (MRXE)|11275|300423||HP:0000750 ;HP:0001249 ;HP:0001270 ;HP:0001419 ;HP:0002069 ;HP:0003593
chrX|40944888|41095832|ENSG00000124486.8|ENSG00000124486.8|USP9X|USP9X|Probable DD gene|Hemizygous|Loss of function|Mental retardation, X-linked 99|13732|300919|24607389|
chrX|41306687|41334963|ENSG00000188937.5|ENSG00000188937.5|NYX|NYX|Confirmed DD Gene|Hemizygous|Loss of function|Night blindness, congenital stationary, type 1A|11151|310500|11062471 ;11062472 ;16670814|HP:0001419 ;HP:0007642 ;HP:0011003 ;HP:0012047
chrX|41374187|41782716|ENSG00000147044.16|ENSG00000147044.16|CASK|CASK|Confirmed DD Gene|X-linked dominant|Loss of function|mental retardation X-linked CASK-related (MRXCASK)|10364|300749|21954287 ;19165920|HP:0000252 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000400 ;HP:0000407 ;HP:0000426 ;HP:0000431 ;HP:0000455 ;HP:0000486 ;HP:0000543 ;HP:0000609 ;HP:0001250 ;HP:0001257 ;HP:0001263 ;HP:0001290 ;HP:0001321 ;HP:0001344 ;HP:0001423 ;HP:0001999 ;HP:0002198 ;HP:0002342 ;HP:0002650 ;HP:0003196 ;HP:0004322 ;HP:0004325 ;HP:0007227 ;HP:0008897 ;HP:0008936
chrX|41374187|41782716|ENSG00000147044.16|ENSG00000147044.16|CASK|CASK|Confirmed DD Gene|Hemizygous|Uncertain|FG syndrome type 4 (FGS4)|11301|300422|20029458 ;19200522 ;19377476|HP:0000316 ;HP:0000407 ;HP:0000431 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001319 ;HP:0001417 ;HP:0002650 ;HP:0008872 ;HP:0011220
chrX|41374187|41782716|ENSG00000147044.16|ENSG00000147044.16|CASK|CASK|Confirmed DD Gene|Hemizygous|All missense/in frame|MRX with/without nystagmus|10115|300749|21954287 ;19165920|HP:0000252 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000400 ;HP:0000407 ;HP:0000426 ;HP:0000431 ;HP:0000455 ;HP:0000486 ;HP:0000543 ;HP:0000609 ;HP:0001250 ;HP:0001257 ;HP:0001263 ;HP:0001290 ;HP:0001321 ;HP:0001344 ;HP:0001423 ;HP:0001999 ;HP:0002198 ;HP:0002342 ;HP:0002650 ;HP:0003196 ;HP:0004322 ;HP:0004325 ;HP:0007227 ;HP:0008897 ;HP:0008936
chrX|43515467|43606068|ENSG00000189221.5|ENSG00000189221.5|MAOA|MAOA|Possible DD Gene|Hemizygous|Loss of function| Brunner syndrome (BRUNS)|10326|300615||
chrX|43808022|43832750|ENSG00000124479.8|ENSG00000124479.8|NDP|NDP|Confirmed DD Gene|Hemizygous|Loss of function|Norrie disease|11508|310600|1307245 ;8268931 ;8790105 ;8069314 ;7814011 ;17334993 ;1303264 ;9143918 ;9382152 ;8990009 ;8240113|HP:0000407 ;HP:0000518 ;HP:0000541 ;HP:0000568 ;HP:0000594 ;HP:0000648 ;HP:0000709 ;HP:0000718 ;HP:0000726 ;HP:0000738 ;HP:0001250 ;HP:0001419 ;HP:0006887 ;HP:0007676 ;HP:0007759 ;HP:0007839 ;HP:0007973
chrX|44732757|44971847|ENSG00000147050.10|ENSG00000147050.10|KDM6A|KDM6A|Confirmed DD Gene|X-linked dominant|Loss of function|KABUKI SYNDROME 2; KABUK2|10662|300867|22197486 ;23076834; 22197486|HP:0000156 ;HP:0000252 ;HP:0000378 ;HP:0000412 ;HP:0000437 ;HP:0000455 ;HP:0000486 ;HP:0000527 ;HP:0000637 ;HP:0000668 ;HP:0000689 ;HP:0000708 ;HP:0000769 ;HP:0001007 ;HP:0001156 ;HP:0001212 ;HP:0001263 ;HP:0001423 ;HP:0001631 ;HP:0001680 ;HP:0001998 ;HP:0002000 ;HP:0002553 ;HP:0002761 ;HP:0004322 ;HP:0004325 ;HP:0005338 ;HP:0007655 ;HP:0008872 ;HP:0011398
chrX|46357162|46404892|ENSG00000251192.3|ENSG00000251192.3|ZNF674|ZNF674|Possible DD Gene|Hemizygous|Loss of function| mental retardation X-linked type 92 (MRX92) |10536|300573||
chrX|47004268|47046212|ENSG00000182872.11|ENSG00000182872.11|RBM10|RBM10|Probable DD gene|Hemizygous|Loss of function|TARP syndrome|10718|311900|5410571 ;20451169|HP:0000162 ;HP:0000175 ;HP:0000347 ;HP:0001417 ;HP:0001762 ;HP:0002564
chrX|47305278|47342345|ENSG00000147124.8|ENSG00000147124.8|ZNF41|ZNF41|Possible DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 89 (MRX89)|10538|314995||HP:0001417
chrX|47431303|47479252|ENSG00000008056.8|ENSG00000008056.8|SYN1|SYN1|Probable DD gene|Hemizygous|Loss of function|Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders|11085|290927||
chrX|47696301|47861960|ENSG00000197779.9|ENSG00000197779.9|ZNF81|ZNF81|Possible DD Gene|Hemizygous|Uncertain|mental retardation X-linked type 45 (MRX45) |11295|300498||HP:0000400 ;HP:0001249 ;HP:0001249 ;HP:0001419 ;HP:0001419
chrX|48334541|48344752|ENSG00000068438.10|ENSG00000068438.10|FTSJ1|FTSJ1|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 44 (MRX44)|10498|309549|15162322 ;10398246 ;8288232|HP:0000717 ;HP:0000750 ;HP:0001250 ;HP:0001256 ;HP:0001417 ;HP:0002194 ;HP:0005280 ;HP:0009832
chrX|48367350|48379202|ENSG00000102312.16|ENSG00000102312.16|PORCN|PORCN|Confirmed DD Gene|X-linked dominant|Loss of function|focal dermal hypoplasia (FODH)|11122|305600|17546031 ;18325042 ;17546030|HP:0000023 ;HP:0000028 ;HP:0000060 ;HP:0000066 ;HP:0000073 ;HP:0000085 ;HP:0000126 ;HP:0000175 ;HP:0000204 ;HP:0000238 ;HP:0000252 ;HP:0000307 ;HP:0000324 ;HP:0000369 ;HP:0000377 ;HP:0000402 ;HP:0000410 ;HP:0000446 ;HP:0000455 ;HP:0000486 ;HP:0000505 ;HP:0000526 ;HP:0000528 ;HP:0000567 ;HP:0000568 ;HP:0000612 ;HP:0000639 ;HP:0000648 ;HP:0000668 ;HP:0000677 ;HP:0000684 ;HP:0000689 ;HP:0000773 ;HP:0000776 ;HP:0001009 ;HP:0001083 ;HP:0001162 ;HP:0001171 ;HP:0001180 ;HP:0001249 ;HP:0001274 ;HP:0001374 ;HP:0001388 ;HP:0001423 ;HP:0001537 ;HP:0001539 ;HP:0001540 ;HP:0001545 ;HP:0001600 ;HP:0001770 ;HP:0001802 ;HP:0001817 ;HP:0001829 ;HP:0001839 ;HP:0001849 ;HP:0002036 ;HP:0002164 ;HP:0002232 ;HP:0002299 ;HP:0002308 ;HP:0002557 ;HP:0002558 ;HP:0002566 ;HP:0002650 ;HP:0003191 ;HP:0003298 ;HP:0004322 ;HP:0004334 ;HP:0006297 ;HP:0006608 ;HP:0006638 ;HP:0007546 ;HP:0007588 ;HP:0008070 ;HP:0009381 ;HP:0009803 ;HP:0010049 ;HP:0010740 ;HP:0010743
chrX|48379546|48387104|ENSG00000147155.6|ENSG00000147155.6|EBP|EBP|Confirmed DD Gene|X-linked dominant|Loss of function|Chondrodysplasia Punctata 2, X-Linked|11029|302960|10391219 ;10391218 ;10942423 ;11038443 ;12503101; 10391218|HP:0000126 ;HP:0000272 ;HP:0000365 ;HP:0000377 ;HP:0000470 ;HP:0000494 ;HP:0000501 ;HP:0000518 ;HP:0000535 ;HP:0000568 ;HP:0000639 ;HP:0000653 ;HP:0000765 ;HP:0000969 ;HP:0001019 ;HP:0001305 ;HP:0001423 ;HP:0001508 ;HP:0001561 ;HP:0001596 ;HP:0001776 ;HP:0002007 ;HP:0002342 ;HP:0002644 ;HP:0002650 ;HP:0002777 ;HP:0002787 ;HP:0002937 ;HP:0002999 ;HP:0003462 ;HP:0003465 ;HP:0003577 ;HP:0003828 ;HP:0004241 ;HP:0007431 ;HP:0008070 ;HP:0008131 ;HP:0008420 ;HP:0008897 ;HP:0010655 ;HP:0011120 ;HP:0100259 ;HP:0100556
chrX|48755195|48760420|ENSG00000102103.11|ENSG00000102103.11|PQBP1|PQBP1|Confirmed DD Gene|Hemizygous|Loss of function|Renpenning syndrome 1 (RENS1)|10288|309500|16493439 ;7943045 ;14634649 ;16740914 ;13981686 ;3177467|HP:0000047 ;HP:0000089 ;HP:0000156 ;HP:0000160 ;HP:0000175 ;HP:0000219 ;HP:0000248 ;HP:0000252 ;HP:0000272 ;HP:0000275 ;HP:0000276 ;HP:0000286 ;HP:0000303 ;HP:0000322 ;HP:0000325 ;HP:0000347 ;HP:0000365 ;HP:0000378 ;HP:0000400 ;HP:0000411 ;HP:0000414 ;HP:0000431 ;HP:0000486 ;HP:0000518 ;HP:0000540 ;HP:0000568 ;HP:0000582 ;HP:0000589 ;HP:0000618 ;HP:0000739 ;HP:0000767 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001347 ;HP:0001419 ;HP:0001547 ;HP:0001611 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001696 ;HP:0001741 ;HP:0001761 ;HP:0001786 ;HP:0002023 ;HP:0002059 ;HP:0002650 ;HP:0004209 ;HP:0004322 ;HP:0005338 ;HP:0008070 ;HP:0008734 ;HP:0009473 ;HP:0200086
chrX|48760459|48769235|ENSG00000102100.10|ENSG00000102100.10|SLC35A2|SLC35A2|Confirmed DD Gene|Mosaic|Loss of function|Congenital Disorder of Glycosylation|13528|||
chrX|48929385|48958108|ENSG00000196998.11|ENSG00000196998.11|WDR45|WDR45|Confirmed DD Gene|X-linked dominant|Loss of function|Neurodegeneration with brain iron accumulation (NBIA)|13490||23176820|
chrX|49044269|49056718|ENSG00000102003.6|ENSG00000102003.6|SYP|SYP|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked SYP-related (MRXSYP)|10515|300802|19377476|HP:0001249 ;HP:0001250 ;HP:0001423
chrX|49091927|49106987|ENSG00000101997.8|ENSG00000101997.8|CCDC22|CCDC22|Probable DD gene|Hemizygous|All missense/in frame|syndromic X-linked intellectual disability|10220|||
chrX|49106897|49121288|ENSG00000049768.10|ENSG00000049768.10|FOXP3|FOXP3|Confirmed DD Gene|Hemizygous|Loss of function|IPEX Syndrome|12267|304790|11137993 ;11120765 ;14671208 ;17635943 ;11137992|HP:0000821 ;HP:0000964 ;HP:0001419 ;HP:0001873 ;HP:0001890 ;HP:0002014 ;HP:0002595 ;HP:0002716 ;HP:0002958 ;HP:0011473 ;HP:0100651
chrX|50334647|50557302|ENSG00000158352.11|ENSG00000158352.11|SHROOM4|SHROOM4|Possible DD Gene|Hemizygous|Uncertain| mental retardation syndromic X-linked Stocco dos Santos type (SDSX)|11278|300434||HP:0002187 ;HP:0002827 ;HP:0004322
chrX|51486481|51489324|ENSG00000189369.7|ENSG00000189369.7|GSPT2|GSPT2|Probable DD gene|Hemizygous|Loss of function|XL Intellectual disability|11173|||
chrX|53220503|53254604|ENSG00000126012.7|ENSG00000126012.7|KDM5C|KDM5C|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked JARID1C-related (MRXSJ)|10427|300534|18697827 ;18203167 ;10982473 ;15586325 ;19826449 ;16538222 ;21575681|HP:0000028 ;HP:0000054 ;HP:0000156 ;HP:0000219 ;HP:0000221 ;HP:0000252 ;HP:0000297 ;HP:0000303 ;HP:0000319 ;HP:0000327 ;HP:0000347 ;HP:0000350 ;HP:0000400 ;HP:0000486 ;HP:0000490 ;HP:0000540 ;HP:0000545 ;HP:0000582 ;HP:0000699 ;HP:0000711 ;HP:0000718 ;HP:0000744 ;HP:0000767 ;HP:0001176 ;HP:0001250 ;HP:0001419 ;HP:0001773 ;HP:0002229 ;HP:0002362 ;HP:0002395 ;HP:0003487 ;HP:0004322 ;HP:0006887 ;HP:0006895 ;HP:0007020 ;HP:0008124 ;HP:0008734 ;HP:0008944 ;HP:0009882 ;HP:0010864 ;HP:0200086
chrX|53262058|53350522|ENSG00000124313.8|ENSG00000124313.8|IQSEC2|IQSEC2|Confirmed DD Gene|Hemizygous|All missense/in frame|mental retardation X-linked type 1 (MRX1)|11258|309530|7943039 ;20473311 ;3177466|HP:0001249 ;HP:0001419
chrX|53262058|53350522|ENSG00000124313.8|ENSG00000124313.8|IQSEC2|IQSEC2|Confirmed DD Gene|X-linked dominant|Loss of function|Epileptic encephalopathy|13610||23934111|
chrX|53401070|53449677|ENSG00000072501.13|ENSG00000072501.13|SMC1A|SMC1A|Confirmed DD Gene|X-linked dominant|Uncertain|Cornelia de Lange syndrome type 2 (CDLS2)|11279|300590|17273969 ;22106055 ;20635401 ;16604071|HP:0000252 ;HP:0000319 ;HP:0000664 ;HP:0001249 ;HP:0001419 ;HP:0001511 ;HP:0002553 ;HP:0004322
chrX|53458206|53461320|ENSG00000072506.8|ENSG00000072506.8|HSD17B10|HSD17B10|Confirmed DD Gene|Hemizygous|All missense/in frame|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)|10112|300438|16148061 ;12696021 ;12555940|HP:0000407 ;HP:0000546 ;HP:0000639 ;HP:0000711 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001266 ;HP:0001423 ;HP:0001942 ;HP:0001943 ;HP:0002344 ;HP:0002376 ;HP:0003128 ;HP:0003593
chrX|53458206|53461320|ENSG00000072506.8|ENSG00000072506.8|HSD17B10|HSD17B10|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked type 10 (MRXS10)|10578|300220|10521307|HP:0000709 ;HP:0000713 ;HP:0000718 ;HP:0000738 ;HP:0001166 ;HP:0001249 ;HP:0001257 ;HP:0001260 ;HP:0001266 ;HP:0001270 ;HP:0001347 ;HP:0001419 ;HP:0002136 ;HP:0002938 ;HP:0003593 ;HP:0009062
chrX|53559057|53713673|ENSG00000086758.11|ENSG00000086758.11|HUWE1|HUWE1|Confirmed DD Gene|Hemizygous|All missense/in frame|mental retardation syndromic X-linked Turner type (MRXST)|10113|300706|18252223 ;7943042|HP:0000053 ;HP:0000256 ;HP:0001182 ;HP:0001249 ;HP:0001360 ;HP:0001377 ;HP:0001417
chrX|53963109|54075391|ENSG00000172943.14|ENSG00000172943.14|PHF8|PHF8|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked Siderius type (MRXSSD)|10486|300263|17594395 ;17661819 ;16199551 ;10398231|
chrX|54471887|54522599|ENSG00000102302.7|ENSG00000102302.7|FGD1|FGD1|Confirmed DD Gene|Hemizygous|Loss of function|Aarskog-Scott syndrome (AAS)|10385|305400|17847065 ;16688726 ;11940089 ;15809997 ;14560308 ;20082460 ;10930571 ;17152066 ;7954831 ;11093277 ;16353258|HP:0000023 ;HP:0000028 ;HP:0000049 ;HP:0000175 ;HP:0000204 ;HP:0000289 ;HP:0000311 ;HP:0000316 ;HP:0000327 ;HP:0000349 ;HP:0000431 ;HP:0000463 ;HP:0000470 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000540 ;HP:0000668 ;HP:0000767 ;HP:0000823 ;HP:0000954 ;HP:0001156 ;HP:0001159 ;HP:0001169 ;HP:0001249 ;HP:0001419 ;HP:0001508 ;HP:0001544 ;HP:0001773 ;HP:0002055 ;HP:0002650 ;HP:0003196 ;HP:0003311 ;HP:0003318 ;HP:0003502 ;HP:0004279 ;HP:0006158 ;HP:0007018 ;HP:0009466 ;HP:0009748
chrX|56258854|56314322|ENSG00000102349.10|ENSG00000102349.10|KLF8|KLF8|Possible DD Gene|Monoallelic|Loss of function|nonsyndromic mental retardation|13429||22495311|
chrX|62854847|63005426|ENSG00000131089.9|ENSG00000131089.9|ARHGEF9|ARHGEF9|Possible DD Gene|Hemizygous|Loss of function|Epileptic encephalopathy, early infantile, 8	|11836|300607|21633362|HP:0001250 ;HP:0001276 ;HP:0001419 ;HP:0002267 ;HP:0003577 ;HP:0006887 ;HP:0010864
chrX|63404997|63425624|ENSG00000184675.5|ENSG00000184675.5|AMER1|AMER1|Both DD and IF|Monoallelic|Loss of function|osteopathia striata with cranial sclerosis (OSCS)|10876|300373||HP:0000003 ;HP:0000156 ;HP:0000175 ;HP:0000179 ;HP:0000193 ;HP:0000201 ;HP:0000204 ;HP:0000238 ;HP:0000239 ;HP:0000256 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000396 ;HP:0000405 ;HP:0000431 ;HP:0000465 ;HP:0000678 ;HP:0000689 ;HP:0000695 ;HP:0000750 ;HP:0000767 ;HP:0000885 ;HP:0001166 ;HP:0001250 ;HP:0001252 ;HP:0001256 ;HP:0001338 ;HP:0001423 ;HP:0001476 ;HP:0001508 ;HP:0001539 ;HP:0001561 ;HP:0001562 ;HP:0001611 ;HP:0001629 ;HP:0001631 ;HP:0001643 ;HP:0001762 ;HP:0002007 ;HP:0002020 ;HP:0002023 ;HP:0002025 ;HP:0002104 ;HP:0002315 ;HP:0002566 ;HP:0002650 ;HP:0002684 ;HP:0002779 ;HP:0002990 ;HP:0003038 ;HP:0003298 ;HP:0004209 ;HP:0004322 ;HP:0005619 ;HP:0005830 ;HP:0006587 ;HP:0006610 ;HP:0006784 ;HP:0008551 ;HP:0010628
chrX|64136250|64254593|ENSG00000126970.11|ENSG00000126970.11|ZC4H2|ZC4H2|Confirmed DD Gene|Hemizygous|Loss of function|Arthrogryposis Multiplex Congenita and Intellectual Disability |13542|314580|1915520 ;23623388 ;4039531; 23623388|HP:0001256 ;HP:0001417 ;HP:0002186 ;HP:0003693 ;HP:0005745
chrX|66764465|66950461|ENSG00000169083.11|ENSG00000169083.11|AR|AR|Both DD and IF|Hemizygous|Loss of function|Androgen Insensitivity Syndrome|11833|300068||HP:0000023 ;HP:0000771 ;HP:0000786 ;HP:0001419 ;HP:0001507 ;HP:0001939 ;HP:0002215 ;HP:0002225 ;HP:0002550 ;HP:0002664 ;HP:0008232 ;HP:0008730
chrX|66764465|66950461|ENSG00000169083.11|ENSG00000169083.11|AR|AR|Both DD and IF|Hemizygous|Dominant negative|Spinal and Bulbar Muscular Atrophy|11834|313200||HP:0000029 ;HP:0000144 ;HP:0000153 ;HP:0000763 ;HP:0000771 ;HP:0001260 ;HP:0001265 ;HP:0001283 ;HP:0001337 ;HP:0001419 ;HP:0002015 ;HP:0002380 ;HP:0003236 ;HP:0003394 ;HP:0003581 ;HP:0003677 ;HP:0003690 ;HP:0008981 ;HP:0009830
chrX|67262186|67653755|ENSG00000079482.11|ENSG00000079482.11|OPHN1|OPHN1|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked OPHN1-related (MRXSO)|10468|300486|20528889 ;12805098 ;9582072 ;16158428 ;12807966|HP:0000028 ;HP:0000046 ;HP:0000054 ;HP:0000219 ;HP:0000256 ;HP:0000276 ;HP:0000303 ;HP:0000322 ;HP:0000336 ;HP:0000400 ;HP:0000486 ;HP:0000490 ;HP:0000601 ;HP:0000639 ;HP:0000750 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001321 ;HP:0001419 ;HP:0002007 ;HP:0002066 ;HP:0002280 ;HP:0003189 ;HP:0003593 ;HP:0006951 ;HP:0007065 ;HP:0011220 ;HP:0200086
chrX|68048840|68061990|ENSG00000090776.5|ENSG00000090776.5|EFNB1|EFNB1|Confirmed DD Gene|X-linked over-dominance|Loss of function|craniofrontonasal syndrome (CFNS)|10893|304110|15166289 ;16685650 ;15124102|HP:0000047 ;HP:0000049 ;HP:0000175 ;HP:0000204 ;HP:0000248 ;HP:0000316 ;HP:0000324 ;HP:0000349 ;HP:0000431 ;HP:0000456 ;HP:0000470 ;HP:0000494 ;HP:0000506 ;HP:0000577 ;HP:0000639 ;HP:0000767 ;HP:0000776 ;HP:0000912 ;HP:0001060 ;HP:0001156 ;HP:0001252 ;HP:0001263 ;HP:0001388 ;HP:0001423 ;HP:0001537 ;HP:0001547 ;HP:0001770 ;HP:0001807 ;HP:0001808 ;HP:0001809 ;HP:0002007 ;HP:0002079 ;HP:0002162 ;HP:0003187 ;HP:0004209 ;HP:0004322 ;HP:0004440 ;HP:0005278 ;HP:0006585 ;HP:0010055 ;HP:0200021 ;HP:0200053
chrX|68835911|69259319|ENSG00000158813.13|ENSG00000158813.13|EDA|EDA|Confirmed DD Gene|Hemizygous|Loss of function|ectodermal dysplasia type 1|11608|305100|9507389 ;19921643 ;17066260 ;8696334 ;9683615 ;19264582 ;12949972 ;9856856|HP:0000232 ;HP:0000327 ;HP:0000331 ;HP:0000336 ;HP:0000430 ;HP:0000535 ;HP:0000607 ;HP:0000653 ;HP:0000668 ;HP:0000679 ;HP:0000691 ;HP:0000698 ;HP:0000958 ;HP:0000964 ;HP:0000966 ;HP:0000970 ;HP:0001006 ;HP:0001020 ;HP:0001106 ;HP:0001419 ;HP:0001425 ;HP:0001598 ;HP:0001609 ;HP:0001618 ;HP:0001945 ;HP:0002007 ;HP:0002046 ;HP:0002223 ;HP:0002299 ;HP:0002557 ;HP:0002557 ;HP:0002561 ;HP:0002880 ;HP:0003196 ;HP:0003828 ;HP:0005280 ;HP:0007411 ;HP:0007592 ;HP:0010803 ;HP:0011830
chrX|68835911|69259319|ENSG00000158813.13|ENSG00000158813.13|EDA|EDA|Confirmed DD Gene|Hemizygous|All missense/in frame|tooth agenesis selective X-linked type 1|11609|313500|18657636 ;16583127 ;17256800|HP:0000668 ;HP:0000677 ;HP:0001423
chrX|69353299|69386174|ENSG00000089289.11|ENSG00000089289.11|IGBP1|IGBP1|Possible DD Gene|Hemizygous|Uncertain|Agenesis of the corpus callosum with mental retardation-ocular coloboma-micrognathia (ACCMRCM) |11382|300472||HP:0000156 ;HP:0000256 ;HP:0000278 ;HP:0000348 ;HP:0000369 ;HP:0000378 ;HP:0000407 ;HP:0000470 ;HP:0000475 ;HP:0000494 ;HP:0000505 ;HP:0000588 ;HP:0000612 ;HP:0000767 ;HP:0001249 ;HP:0001274 ;HP:0001419 ;HP:0002650 ;HP:0004322
chrX|69509879|69640682|ENSG00000090889.10|ENSG00000090889.10|KIF4A|KIF4A|Possible DD Gene|Hemizygous|Loss of function|Intellectual disability|13555||24812067|
chrX|69664711|69725337|ENSG00000082458.7|ENSG00000082458.7|DLG3|DLG3|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 90 (MRX90)|10371|300189||
chrX|70338406|70362303|ENSG00000184634.11|ENSG00000184634.11|MED12|MED12|Confirmed DD Gene|Hemizygous|Uncertain|Opitz-Kaveggia syndrome (OKS)|11265|305450|17334363|HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000154 ;HP:0000175 ;HP:0000179 ;HP:0000189 ;HP:0000204 ;HP:0000238 ;HP:0000260 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000407 ;HP:0000448 ;HP:0000453 ;HP:0000470 ;HP:0000486 ;HP:0000494 ;HP:0000678 ;HP:0000766 ;HP:0000954 ;HP:0000960 ;HP:0001150 ;HP:0001159 ;HP:0001171 ;HP:0001212 ;HP:0001249 ;HP:0001250 ;HP:0001270 ;HP:0001319 ;HP:0001338 ;HP:0001357 ;HP:0001419 ;HP:0001476 ;HP:0001537 ;HP:0001545 ;HP:0001620 ;HP:0001627 ;HP:0001739 ;HP:0002007 ;HP:0002019 ;HP:0002021 ;HP:0002023 ;HP:0002025 ;HP:0002213 ;HP:0002236 ;HP:0002282 ;HP:0002566 ;HP:0002828 ;HP:0002938 ;HP:0004322 ;HP:0005490 ;HP:0005833 ;HP:0007018 ;HP:0008070 ;HP:0009466 ;HP:0009473 ;HP:0009762 ;HP:0010055 ;HP:0010609 ;HP:0011220 ;HP:0011266 ;HP:0011304
chrX|70338406|70362303|ENSG00000184634.11|ENSG00000184634.11|MED12|MED12|Confirmed DD Gene|Hemizygous|Uncertain|Lujan-Fryns syndrome (LUJFRYS)|11338|309520|6711603|HP:0000119 ;HP:0000156 ;HP:0000194 ;HP:0000219 ;HP:0000256 ;HP:0000275 ;HP:0000276 ;HP:0000322 ;HP:0000327 ;HP:0000347 ;HP:0000369 ;HP:0000426 ;HP:0000446 ;HP:0000678 ;HP:0000709 ;HP:0000712 ;HP:0000717 ;HP:0000718 ;HP:0000722 ;HP:0000735 ;HP:0000744 ;HP:0000752 ;HP:0000767 ;HP:0001166 ;HP:0001249 ;HP:0001250 ;HP:0001274 ;HP:0001290 ;HP:0001371 ;HP:0001388 ;HP:0001419 ;HP:0001519 ;HP:0001547 ;HP:0001611 ;HP:0001629 ;HP:0001631 ;HP:0002002 ;HP:0002007 ;HP:0002631 ;HP:0003189 ;HP:0008544 ;HP:0011220 ;HP:0011304 ;HP:0200086
chrX|70364681|70391051|ENSG00000196338.8|ENSG00000196338.8|NLGN3|NLGN3|Probable DD gene|Hemizygous|Loss of function|Autism Spectrum Disorders|12758|198890|12669065|
chrX|70459474|70474996|ENSG00000147130.10|ENSG00000147130.10|ZMYM3|ZMYM3|Possible DD Gene|Monoallelic|Uncertain|ZINC FINGER, MYM-TYPE 3; ZMYM3|11293|300061||
chrX|71549366|71792953|ENSG00000147099.15|ENSG00000147099.15|HDAC8|HDAC8|Confirmed DD Gene|Hemizygous|Loss of function|Cornelia de Lange-like syndrome|13562|300882|22885700; 22885700|HP:0000156 ;HP:0000213 ;HP:0000248 ;HP:0000294 ;HP:0000343 ;HP:0000347 ;HP:0000426 ;HP:0000463 ;HP:0000508 ;HP:0000527 ;HP:0000664 ;HP:0000965 ;HP:0001007 ;HP:0001250 ;HP:0001263 ;HP:0001377 ;HP:0001417 ;HP:0001773 ;HP:0002119 ;HP:0002553 ;HP:0002714 ;HP:0004209 ;HP:0008872 ;HP:0009623 ;HP:0200055 ;HP:0200055
chrX|71549366|71792953|ENSG00000147099.15|ENSG00000147099.15|HDAC8|HDAC8|Confirmed DD Gene|X-linked dominant|Loss of function|Cornelia de Lange-like syndrome|13563|300882|22885700; 22885700|HP:0000156 ;HP:0000213 ;HP:0000248 ;HP:0000294 ;HP:0000343 ;HP:0000347 ;HP:0000426 ;HP:0000463 ;HP:0000508 ;HP:0000527 ;HP:0000664 ;HP:0000965 ;HP:0001007 ;HP:0001250 ;HP:0001263 ;HP:0001377 ;HP:0001417 ;HP:0001773 ;HP:0002119 ;HP:0002553 ;HP:0002714 ;HP:0004209 ;HP:0008872 ;HP:0009623 ;HP:0200055 ;HP:0200055
chrX|71549366|71792953|ENSG00000147099.15|ENSG00000147099.15|HDAC8|HDAC8|Confirmed DD Gene|Hemizygous|Uncertain|Wilson-Turner syndrome	|13566|309585||HP:0000028 ;HP:0000054 ;HP:0000135 ;HP:0000248 ;HP:0000252 ;HP:0000278 ;HP:0000336 ;HP:0000455 ;HP:0000490 ;HP:0000692 ;HP:0000712 ;HP:0000750 ;HP:0000771 ;HP:0000823 ;HP:0001182 ;HP:0001249 ;HP:0001419 ;HP:0001423 ;HP:0001773 ;HP:0001956 ;HP:0002808 ;HP:0003199 ;HP:0004322 ;HP:0008734 ;HP:0200055
chrX|73641085|73753752|ENSG00000147100.5|ENSG00000147100.5|SLC16A2|SLC16A2|Confirmed DD Gene|Hemizygous|Loss of function|MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency|13119|300523|1605231 ;14661163 ;15488219 ;8484404 ;15889350|HP:0000252 ;HP:0000341 ;HP:0000377 ;HP:0000395 ;HP:0000400 ;HP:0000549 ;HP:0000639 ;HP:0000737 ;HP:0000767 ;HP:0000821 ;HP:0001251 ;HP:0001258 ;HP:0001260 ;HP:0001319 ;HP:0001347 ;HP:0001371 ;HP:0001423 ;HP:0001547 ;HP:0001763 ;HP:0001822 ;HP:0002169 ;HP:0002188 ;HP:0002307 ;HP:0002415 ;HP:0002510 ;HP:0002540 ;HP:0002650 ;HP:0002925 ;HP:0003487 ;HP:0003577 ;HP:0003700 ;HP:0006887 ;HP:0007316 ;HP:0008872 ;HP:0010864 ;HP:0100015
chrX|73952684|74145282|ENSG00000050030.9|ENSG00000050030.9|KIAA2022|KIAA2022|Possible DD Gene|Hemizygous|Uncertain|KIAA2022|11259|300524||
chrX|74273115|74376567|ENSG00000131269.11|ENSG00000131269.11|ABCB7|ABCB7|Confirmed DD Gene|Hemizygous|All missense/in frame|Anemia, sideroblastic, with ataxia	|11731|301310||HP:0001260 ;HP:0001310 ;HP:0001347 ;HP:0001419 ;HP:0001939 ;HP:0002075 ;HP:0002080 ;HP:0002169 ;HP:0002470 ;HP:0003487 ;HP:0003621 ;HP:0004840
chrX|74588262|74743337|ENSG00000102383.9|ENSG00000102383.9|ZDHHC15|ZDHHC15|Possible DD Gene|Uncertain|Uncertain|mental retardation X-linked type 91 (MRX91) |11292|300577||HP:0000156 ;HP:0000286 ;HP:0001256 ;HP:0001263 ;HP:0001344 ;HP:0001417 ;HP:0001513 ;HP:0001572 ;HP:0001773 ;HP:0001999 ;HP:0002162 ;HP:0003196 ;HP:0006829 ;HP:0009237 ;HP:0200055
chrX|76760356|77041702|ENSG00000085224.16|ENSG00000085224.16|ATRX|ATRX|Confirmed DD Gene|Hemizygous|Loss of function|alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX)|10335|301040|7697714 ;9598720 ;9244431 ;8644709 ;10995512 ;15565397 ;12116232|HP:0000028 ;HP:0000047 ;HP:0000049 ;HP:0000054 ;HP:0000104 ;HP:0000126 ;HP:0000158 ;HP:0000179 ;HP:0000252 ;HP:0000272 ;HP:0000286 ;HP:0000316 ;HP:0000358 ;HP:0000369 ;HP:0000407 ;HP:0000463 ;HP:0001182 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001263 ;HP:0001423 ;HP:0001537 ;HP:0001566 ;HP:0001762 ;HP:0001939 ;HP:0002019 ;HP:0002020 ;HP:0002059 ;HP:0002673 ;HP:0002688 ;HP:0002751 ;HP:0002937 ;HP:0003196 ;HP:0003812 ;HP:0004840 ;HP:0005280 ;HP:0008551 ;HP:0008897 ;HP:0008947 ;HP:0009466 ;HP:0010806 ;HP:0010808 ;HP:0011682 ;HP:0011907
chrX|76760356|77041702|ENSG00000085224.16|ENSG00000085224.16|ATRX|ATRX|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1)|10546|309580|10632111 ;6711605 ;16222662 ;6682021 ;10751095 ;9043863|HP:0000028 ;HP:0000046 ;HP:0000047 ;HP:0000054 ;HP:0000076 ;HP:0000089 ;HP:0000135 ;HP:0000154 ;HP:0000156 ;HP:0000158 ;HP:0000179 ;HP:0000194 ;HP:0000252 ;HP:0000268 ;HP:0000272 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000407 ;HP:0000431 ;HP:0000451 ;HP:0000463 ;HP:0000470 ;HP:0000508 ;HP:0000577 ;HP:0000582 ;HP:0000648 ;HP:0000749 ;HP:0000752 ;HP:0001156 ;HP:0001182 ;HP:0001238 ;HP:0001250 ;HP:0001347 ;HP:0001419 ;HP:0001566 ;HP:0001762 ;HP:0001763 ;HP:0001871 ;HP:0001884 ;HP:0002013 ;HP:0002019 ;HP:0002020 ;HP:0002307 ;HP:0002750 ;HP:0002751 ;HP:0002857 ;HP:0003812 ;HP:0004322 ;HP:0005280 ;HP:0006887 ;HP:0006895 ;HP:0008551 ;HP:0008734 ;HP:0008947 ;HP:0009466 ;HP:0010804 ;HP:0010806 ;HP:0010808 ;HP:0200087
chrX|77081861|77151090|ENSG00000102158.15|ENSG00000102158.15|MAGT1|MAGT1|Possible DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 95 (MRX95)|10438|300716|18455129|HP:0000750 ;HP:0001249 ;HP:0001417
chrX|77154935|77162870|ENSG00000131174.4|ENSG00000131174.4|COX7B|COX7B|Confirmed DD Gene|X-linked dominant|Loss of function|Microphthalmia with Linear Skin Lesions|13469|300887|23122588 ;9747372; 23122588|HP:0000252 ;HP:0000316 ;HP:0000331 ;HP:0000343 ;HP:0000348 ;HP:0000358 ;HP:0000505 ;HP:0000543 ;HP:0000545 ;HP:0001057 ;HP:0001263 ;HP:0001423 ;HP:0001631 ;HP:0001636 ;HP:0001714 ;HP:0001852 ;HP:0001999 ;HP:0002092 ;HP:0002319 ;HP:0002553 ;HP:0003196 ;HP:0004322 ;HP:0006610
chrX|77166194|77305892|ENSG00000165240.13|ENSG00000165240.13|ATP7A|ATP7A|Confirmed DD Gene|Hemizygous|Loss of function|Menkes disease|10721|309400|15372525 ;9894833 ;8812725 ;7842019 ;19194885 ;12221109 ;10739752 ;14635105|HP:0000248 ;HP:0000252 ;HP:0000271 ;HP:0000939 ;HP:0000973 ;HP:0001010 ;HP:0001249 ;HP:0001250 ;HP:0001276 ;HP:0001388 ;HP:0001419 ;HP:0001511 ;HP:0002045 ;HP:0002170 ;HP:0002645 ;HP:0003016 ;HP:0003819 ;HP:0004322 ;HP:0005054 ;HP:0008070
chrX|77166194|77305892|ENSG00000165240.13|ENSG00000165240.13|ATP7A|ATP7A|Confirmed DD Gene|Hemizygous|Loss of function|Occipital horn syndrome|10771|304150|11431706 ;10739752 ;9246006 ;17108763 ;8149649|HP:0000015 ;HP:0000126 ;HP:0000156 ;HP:0000275 ;HP:0000276 ;HP:0000343 ;HP:0000348 ;HP:0000444 ;HP:0000472 ;HP:0000767 ;HP:0000768 ;HP:0000774 ;HP:0000885 ;HP:0000894 ;HP:0000916 ;HP:0000926 ;HP:0000939 ;HP:0000974 ;HP:0000977 ;HP:0000978 ;HP:0001241 ;HP:0001278 ;HP:0001377 ;HP:0001388 ;HP:0001419 ;HP:0001582 ;HP:0001763 ;HP:0002028 ;HP:0002036 ;HP:0002208 ;HP:0002673 ;HP:0002808 ;HP:0002857 ;HP:0002862 ;HP:0003066 ;HP:0003276 ;HP:0004474 ;HP:0005302 ;HP:0005792 ;HP:0006000
chrX|77166194|77305892|ENSG00000165240.13|ENSG00000165240.13|ATP7A|ATP7A|Confirmed DD Gene|Hemizygous|All missense/in frame|Spinal muscular atrophy, distal, X-linked 3|10151|300489|19153371 ;20170900|HP:0000759 ;HP:0001265 ;HP:0001419 ;HP:0001761 ;HP:0002317 ;HP:0002460 ;HP:0002936 ;HP:0003445 ;HP:0003621 ;HP:0003677 ;HP:0003693 ;HP:0007269
chrX|77320685|77384793|ENSG00000102144.9|ENSG00000102144.9|PGK1|PGK1|Confirmed DD Gene|Hemizygous|Loss of function|phosphoglycerate kinase 1 deficiency (PGK1D)|10483|300653|16740138 ;6941312 ;1547346 ;6933565 ;1586722 ;16567715 ;19157875 ;9512313 ;9744480 ;8673469|HP:0000083 ;HP:0000556 ;HP:0000572 ;HP:0000712 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001263 ;HP:0001419 ;HP:0001878 ;HP:0001923 ;HP:0002076 ;HP:0003198 ;HP:0003201 ;HP:0003546 ;HP:0003710 ;HP:0003812 ;HP:0008305
chrX|79270255|79287268|ENSG00000122145.10|ENSG00000122145.10|TBX22|TBX22|Confirmed DD Gene|Hemizygous|Loss of function|Cleft Palate, X-Linked|11087|304011||
chrX|79926353|80065187|ENSG00000165288.10|ENSG00000165288.10|BRWD3|BRWD3|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 93 (MRX93)|10346|300659|17668385|HP:0000028 ;HP:0000256 ;HP:0000276 ;HP:0000378 ;HP:0000400 ;HP:0000750 ;HP:0001252 ;HP:0001256 ;HP:0001419 ;HP:0001763 ;HP:0002007 ;HP:0011220
chrX|84498997|84528368|ENSG00000147180.12|ENSG00000147180.12|ZNF711|ZNF711|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked ZNF711-related (MRXZ)|10537|300803|19377476|HP:0001249 ;HP:0001417
chrX|85116185|85302566|ENSG00000188419.9|ENSG00000188419.9|CHM|CHM|Confirmed DD Gene|Hemizygous|Loss of function|Choroideremia|11986|303100|21905166 ;1302003 ;8477262 ;7981670 ;12827496 ;1598901|HP:0000529 ;HP:0000662 ;HP:0001000 ;HP:0001133 ;HP:0001139 ;HP:0001150 ;HP:0001423 ;HP:0007945
chrX|99546642|99665271|ENSG00000165194.10|ENSG00000165194.10|PCDH19|PCDH19|Confirmed DD Gene|X-linked over-dominance|Loss of function|epileptic encephalopathy early infantile type 9 (EIEE9)|10472|300088|19214208 ;18469813 ;19752159 ;5116697|HP:0000709 ;HP:0000718 ;HP:0001263 ;HP:0001417 ;HP:0002069 ;HP:0002121 ;HP:0002123 ;HP:0002133 ;HP:0003593 ;HP:0007359 ;HP:0010819
chrX|99899215|99926296|ENSG00000102359.5|ENSG00000102359.5|SRPX2|SRPX2|Probable DD gene|Hemizygous|Uncertain|bilateral perisylvian polymicrogyria (BPP)|11282|300388||HP:0000750 ;HP:0001423 ;HP:0002069 ;HP:0002126 ;HP:0007024 ;HP:0007270 ;HP:0010522
chrX|99899215|99926296|ENSG00000102359.5|ENSG00000102359.5|SRPX2|SRPX2|Probable DD gene|Hemizygous|Uncertain|rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX)|11357|300643|16497722|HP:0000006 ;HP:0001256 ;HP:0007095 ;HP:0007359 ;HP:0011098
chrX|100600649|100604184|ENSG00000126953.5|ENSG00000126953.5|TIMM8A|TIMM8A|Both DD and IF|Hemizygous|Loss of function|Jensen syndrome|11542|311150||HP:0000618 ;HP:0000648 ;HP:0000726 ;HP:0001417 ;HP:0002514 ;HP:0003700 ;HP:0008610
chrX|100600649|100604184|ENSG00000126953.5|ENSG00000126953.5|TIMM8A|TIMM8A|Both DD and IF|Hemizygous|Loss of function|Mohr-Tranebjaerg syndrome|11543|304700||HP:0000408 ;HP:0000505 ;HP:0000512 ;HP:0000545 ;HP:0000613 ;HP:0001133 ;HP:0001257 ;HP:0001260 ;HP:0001268 ;HP:0001332 ;HP:0001337 ;HP:0001347 ;HP:0001419 ;HP:0002015 ;HP:0002533 ;HP:0002659 ;HP:0008596 ;HP:0008596 ;HP:0011463 ;HP:0100704
chrX|101087085|101112549|ENSG00000126952.12|ENSG00000126952.12|NXF5|NXF5|Possible DD Gene|Uncertain|Uncertain|NUCLEAR RNA EXPORT FACTOR 5; NXF5|11269|300319||
chrX|103028647|103047548|ENSG00000123560.9|ENSG00000123560.9|PLP1|PLP1|Confirmed DD Gene|Hemizygous|Loss of function|leukodystrophy hypomyelinating type 1 (HLD1)|10455|312080|1605230 ;7574457 ;2773936 ;8696336 ;11071483 ;9056547 ;8659540 ;7683951 ;8723686 ;3827224 ;1715570 ;7573159 ;1707231 ;1720927 ;8786077 ;1384324 ;2480601|HP:0000252 ;HP:0000365 ;HP:0000639 ;HP:0000648 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001260 ;HP:0001263 ;HP:0001265 ;HP:0001266 ;HP:0001332 ;HP:0001337 ;HP:0001419 ;HP:0001508 ;HP:0001583 ;HP:0002015 ;HP:0002168 ;HP:0002361 ;HP:0002478 ;HP:0002599 ;HP:0003269 ;HP:0003593 ;HP:0003677 ;HP:0004322 ;HP:0004886 ;HP:0007266 ;HP:0100709
chrX|103028647|103047548|ENSG00000123560.9|ENSG00000123560.9|PLP1|PLP1|Confirmed DD Gene|Hemizygous|Uncertain|spastic paraplegia X-linked type 2 (SPG2)|11342|312920|8320699 ;8956049 ;17438221 ;9489796 ;14452137|HP:0000639 ;HP:0000648 ;HP:0001249 ;HP:0001258 ;HP:0001260 ;HP:0001310 ;HP:0001347 ;HP:0001371 ;HP:0001419 ;HP:0001761 ;HP:0002061 ;HP:0002064 ;HP:0002314 ;HP:0002503 ;HP:0003202 ;HP:0003269 ;HP:0003487 ;HP:0003621 ;HP:0003812 ;HP:0007340
chrX|106871737|106894256|ENSG00000147224.6|ENSG00000147224.6|PRPS1|PRPS1|Confirmed DD Gene|Hemizygous|Activating|phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)|10064|300661|2423135 ;6243137 ;7593598 ;171280|HP:0000083 ;HP:0000407 ;HP:0000791 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001419 ;HP:0001997 ;HP:0003149
chrX|106871737|106894256|ENSG00000147224.6|ENSG00000147224.6|PRPS1|PRPS1|Confirmed DD Gene|Hemizygous|Loss of function|Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5)|10625|311070|17701900|HP:0000407 ;HP:0000529 ;HP:0000648 ;HP:0001270 ;HP:0001288 ;HP:0001419 ;HP:0001761 ;HP:0002460 ;HP:0002522 ;HP:0002936 ;HP:0003383 ;HP:0003481 ;HP:0003693 ;HP:0011463
chrX|106871737|106894256|ENSG00000147224.6|ENSG00000147224.6|PRPS1|PRPS1|Confirmed DD Gene|Hemizygous|Loss of function|ARTS syndrome (ARTS)|10626|301835|8498830 ;17701896 ;22246954|HP:0000365 ;HP:0000572 ;HP:0000639 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001263 ;HP:0001284 ;HP:0001319 ;HP:0001347 ;HP:0001419 ;HP:0001510 ;HP:0001522 ;HP:0002015 ;HP:0002307 ;HP:0002445 ;HP:0002719 ;HP:0002721 ;HP:0002788 ;HP:0003323 ;HP:0008311
chrX|106871737|106894256|ENSG00000147224.6|ENSG00000147224.6|PRPS1|PRPS1|Confirmed DD Gene|Hemizygous|Uncertain|deafness X-linked type 1 (DFNX1)|11354|304500|15240907 ;20021999 ;10503584 ;8968763|HP:0000365 ;HP:0001417
chrX|108867473|108976632|ENSG00000068366.15|ENSG00000068366.15|ACSL4|ACSL4|Probable DD gene|Hemizygous|Loss of function|mental retardation X-linked type 63 (MRX63)|10321|300387|12525535 ;11889465|HP:0001249 ;HP:0001417
chrX|108867473|108976632|ENSG00000068366.15|ENSG00000068366.15|ACSL4|ACSL4|Probable DD gene|Hemizygous|Loss of function|Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR)|10539|300194||
chrX|109917084|110039286|ENSG00000101938.10|ENSG00000101938.10|CHRDL1|CHRDL1|Confirmed DD Gene|Hemizygous|Loss of function|Megalocornea, X-linked|10696|309300|22284829|HP:0000483 ;HP:0000485 ;HP:0000518 ;HP:0001084 ;HP:0001132 ;HP:0001419 ;HP:0007836 ;HP:0011487 ;HP:0100693
chrX|110187513|110470589|ENSG00000077264.10|ENSG00000077264.10|PAK3|PAK3|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 30 (MRX30)|10470|300558|9332663 ;8826460 ;12884430 ;17853471 ;18523455|HP:0000194 ;HP:0000218 ;HP:0000219 ;HP:0000252 ;HP:0000400 ;HP:0000463 ;HP:0000709 ;HP:0000713 ;HP:0000718 ;HP:0000736 ;HP:0000739 ;HP:0000750 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001419 ;HP:0002194 ;HP:0002307 ;HP:0003196 ;HP:0003828 ;HP:0200086
chrX|110187513|110470589|ENSG00000077264.10|ENSG00000077264.10|PAK3|PAK3|Confirmed DD Gene|Hemizygous|Activating|Agenesis of the corpus callosum|13719||24556213|
chrX|110537007|110655603|ENSG00000077279.12|ENSG00000077279.12|DCX|DCX|Confirmed DD Gene|Hemizygous|Loss of function|lissencephaly X-linked type 1 (LISX1)|10368|300067|12552055 ;11468322 ;9489699 ;9489700 ;10441340|HP:0000054 ;HP:0000639 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001260 ;HP:0001270 ;HP:0001274 ;HP:0001302 ;HP:0001339 ;HP:0001417 ;HP:0001522 ;HP:0003593 ;HP:0003829 ;HP:0008897 ;HP:0008936
chrX|110537007|110655603|ENSG00000077279.12|ENSG00000077279.12|DCX|DCX|Confirmed DD Gene|X-linked dominant|Loss of function|subcortical band heterotopia X-linked (SBHX)|10556|300067|12552055 ;11468322 ;9489699 ;9489700 ;10441340|HP:0000054 ;HP:0000639 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001260 ;HP:0001270 ;HP:0001274 ;HP:0001302 ;HP:0001339 ;HP:0001417 ;HP:0001522 ;HP:0003593 ;HP:0003829 ;HP:0008897 ;HP:0008936
chrX|110909043|111003877|ENSG00000101901.6|ENSG00000101901.6|ALG13|ALG13|Probable DD gene|Hemizygous|All missense/in frame|epileptic encephalopathies.|13600||23934111|
chrX|110909043|111003877|ENSG00000101901.6|ENSG00000101901.6|ALG13|ALG13|Probable DD gene|Hemizygous|All missense/in frame|Congenital disorder of glycosylation, type Is	|13601|300884|22492991|HP:0000252 ;HP:0000648 ;HP:0000666 ;HP:0001419 ;HP:0002071 ;HP:0002240 ;HP:0002719 ;HP:0003642
chrX|110909043|111003877|ENSG00000101901.6|ENSG00000101901.6|ALG13|ALG13|Probable DD gene|Hemizygous|All missense/in frame|epileptic encephalopathies.|13602|||
chrX|110909043|111003877|ENSG00000101901.6|ENSG00000101901.6|ALG13|ALG13|Probable DD gene|X-linked dominant|All missense/in frame|epileptic encephalopathies.|13603||23934111|
chrX|115301975|115306225|ENSG00000180772.6|ENSG00000180772.6|AGTR2|AGTR2|Possible DD Gene|Hemizygous|Loss of function|X-Linked Mental Retardation 88|11002|290909||
chrX|118708501|118718381|ENSG00000077721.11|ENSG00000077721.11|UBE2A|UBE2A|Confirmed DD Gene|Hemizygous|Loss of function|UBE2A-Related X-Linked Syndromic Mental Retardation|11097|319562||
chrX|118967985|118986961|ENSG00000125351.6|ENSG00000125351.6|UPF3B|UPF3B|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked type 14 (MRXS14)|10497|300676|17704778|HP:0000156 ;HP:0000256 ;HP:0000275 ;HP:0000276 ;HP:0000303 ;HP:0000327 ;HP:0000426 ;HP:0000767 ;HP:0000768 ;HP:0000774 ;HP:0001166 ;HP:0001249 ;HP:0001419 ;HP:0001507 ;HP:0001611 ;HP:0001833 ;HP:0002007 ;HP:0002650 ;HP:0002808 ;HP:0003011 ;HP:0011220
chrX|119005450|119010625|ENSG00000125356.6|ENSG00000125356.6|NDUFA1|NDUFA1|Confirmed DD Gene|Hemizygous|Loss of function|Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)|12718|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chrX|119561682|119603220|ENSG00000005893.11|ENSG00000005893.11|LAMP2|LAMP2|Confirmed DD Gene|Hemizygous|Loss of function|Danon disease (DAND)|10432|300257|15673802 ;3087571 ;15253947 ;15907287 ;10972294 ;12112061 ;8504498|HP:0000505 ;HP:0001249 ;HP:0001263 ;HP:0001423 ;HP:0001639 ;HP:0001640 ;HP:0001644 ;HP:0001685 ;HP:0001700 ;HP:0001716 ;HP:0001761 ;HP:0002375 ;HP:0003236 ;HP:0003458 ;HP:0003546 ;HP:0003700 ;HP:0003701 ;HP:0003710 ;HP:0003812 ;HP:0011675
chrX|119658464|119709649|ENSG00000158290.12|ENSG00000158290.12|CUL4B|CUL4B|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked Cabezas type (MRXC)|10365|300354|17236139|HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000135 ;HP:0000158 ;HP:0000179 ;HP:0000720 ;HP:0000752 ;HP:0000771 ;HP:0000823 ;HP:0001065 ;HP:0001249 ;HP:0001250 ;HP:0001337 ;HP:0001344 ;HP:0001388 ;HP:0001419 ;HP:0001761 ;HP:0001763 ;HP:0001773 ;HP:0001956 ;HP:0002066 ;HP:0002808 ;HP:0004322 ;HP:0004482 ;HP:0008734
chrX|122318006|122624766|ENSG00000125675.13|ENSG00000125675.13|GRIA3|GRIA3|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 94 (MRX94)|10408|300699|17989220|HP:0000256 ;HP:0000717 ;HP:0001249 ;HP:0001250 ;HP:0001265 ;HP:0001336 ;HP:0001419 ;HP:0001533 ;HP:0002460
chrX|128673826|128726538|ENSG00000122126.11|ENSG00000122126.11|OCRL|OCRL|Confirmed DD Gene|Hemizygous|Loss of function|Lowe oculocerebrorenal syndrome (OCRL)|11116|309000|9632163|HP:0000028 ;HP:0000083 ;HP:0000093 ;HP:0000501 ;HP:0000505 ;HP:0000519 ;HP:0000568 ;HP:0000718 ;HP:0000733 ;HP:0000926 ;HP:0001225 ;HP:0001249 ;HP:0001250 ;HP:0001284 ;HP:0001319 ;HP:0001371 ;HP:0001382 ;HP:0001419 ;HP:0001482 ;HP:0001508 ;HP:0001994 ;HP:0002019 ;HP:0002049 ;HP:0002119 ;HP:0002650 ;HP:0002748 ;HP:0002749 ;HP:0002756 ;HP:0002808 ;HP:0002827 ;HP:0002857 ;HP:0003109 ;HP:0003124 ;HP:0003148 ;HP:0003355 ;HP:0003646 ;HP:0004322 ;HP:0004639 ;HP:0005984 ;HP:0006297 ;HP:0007109 ;HP:0007948 ;HP:0100490
chrX|128673826|128726538|ENSG00000122126.11|ENSG00000122126.11|OCRL|OCRL|Confirmed DD Gene|Hemizygous|Uncertain|Dent disease type 2|11389|300555|15627218|HP:0000106 ;HP:0000114 ;HP:0000121 ;HP:0001263 ;HP:0001419 ;HP:0001537 ;HP:0002150 ;HP:0003126 ;HP:0003236 ;HP:0003355 ;HP:0004322 ;HP:0011463
chrX|128937264|128977885|ENSG00000188706.8|ENSG00000188706.8|ZDHHC9|ZDHHC9|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked ZDHHC9-related (MRXSZ)|10534|300799|17436253|HP:0000412 ;HP:0000486 ;HP:0000708 ;HP:0000768 ;HP:0001166 ;HP:0001249 ;HP:0001417 ;HP:0001519 ;HP:0001763 ;HP:0009183
chrX|129263337|129299861|ENSG00000156709.9|ENSG00000156709.9|AIFM1|AIFM1|Probable DD gene|Hemizygous|All missense/in frame|Combined Oxidative Phosphorylation Deficiency 6|11784|319521| 20362274|
chrX|129263337|129299861|ENSG00000156709.9|ENSG00000156709.9|AIFM1|AIFM1|Probable DD gene|Hemizygous|All missense/in frame|Cowchock Syndrome|13486||23217327|
chrX|130407480|130533677|ENSG00000147255.13|ENSG00000147255.13|IGSF1|IGSF1|Confirmed DD Gene|Hemizygous|Loss of function|central hypothyroidism and testicular enlargement|13480|300888|23143598; 23143598|HP:0001419
chrX|131211021|131262048|ENSG00000165694.5|ENSG00000165694.5|FRMD7|FRMD7|Confirmed DD Gene|Hemizygous|Loss of function|Nystagmus 1, congenital, X-linked|10678|310700|16240070 ;19072571 ;17962394 ;21746984 ;18087240 ;17013395|HP:0000666 ;HP:0001419 ;HP:0001423 ;HP:0001425 ;HP:0003593 ;HP:0006934 ;HP:0007739 ;HP:0012043
chrX|132669773|133119922|ENSG00000147257.9|ENSG00000147257.9|GPC3|GPC3|Confirmed DD Gene|Hemizygous|Loss of function|Simpson-Golabi-Behmel syndrome, type 1|10639|312870|18203194 ;16158429 ;17850639 ;10814714 ;9950367; 8589713|HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000105 ;HP:0000107 ;HP:0000154 ;HP:0000158 ;HP:0000175 ;HP:0000216 ;HP:0000238 ;HP:0000256 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000365 ;HP:0000384 ;HP:0000431 ;HP:0000463 ;HP:0000494 ;HP:0000689 ;HP:0000767 ;HP:0000776 ;HP:0000891 ;HP:0001162 ;HP:0001169 ;HP:0001233 ;HP:0001252 ;HP:0001274 ;HP:0001320 ;HP:0001419 ;HP:0001537 ;HP:0001540 ;HP:0001629 ;HP:0001638 ;HP:0001642 ;HP:0001643 ;HP:0001669 ;HP:0001744 ;HP:0001748 ;HP:0001762 ;HP:0001773 ;HP:0001792 ;HP:0001837 ;HP:0002240 ;HP:0002245 ;HP:0002558 ;HP:0002566 ;HP:0002650 ;HP:0002667 ;HP:0002869 ;HP:0003196 ;HP:0003422 ;HP:0003517 ;HP:0004279 ;HP:0004467 ;HP:0004510 ;HP:0005280 ;HP:0005580 ;HP:0005616 ;HP:0006176 ;HP:0006525 ;HP:0008416 ;HP:0008803 ;HP:0008815 ;HP:0009101 ;HP:0009882 ;HP:0011304 ;HP:0011675
chrX|133507283|133562820|ENSG00000156531.12|ENSG00000156531.12|PHF6|PHF6|Confirmed DD Gene|Hemizygous|Loss of function|Boerjeson-Forssman-Lehmann syndrome (BFLS)|10485|301900|15994862 ;12415272 ;15466013|HP:0000028 ;HP:0000054 ;HP:0000252 ;HP:0000280 ;HP:0000336 ;HP:0000400 ;HP:0000490 ;HP:0000505 ;HP:0000508 ;HP:0000581 ;HP:0000639 ;HP:0000771 ;HP:0000823 ;HP:0001182 ;HP:0001250 ;HP:0001252 ;HP:0001419 ;HP:0001513 ;HP:0001831 ;HP:0002353 ;HP:0002650 ;HP:0002684 ;HP:0002808 ;HP:0004322 ;HP:0006110 ;HP:0006118 ;HP:0008094 ;HP:0008445 ;HP:0008478 ;HP:0008687 ;HP:0010864
chrX|133594183|133654543|ENSG00000165704.10|ENSG00000165704.10|HPRT1|HPRT1|Confirmed DD Gene|Hemizygous|Loss of function|Lesch-Nyhan syndrome (LNS)|10413|300322||HP:0000029 ;HP:0000787 ;HP:0001249 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001266 ;HP:0001270 ;HP:0001332 ;HP:0001347 ;HP:0001419 ;HP:0001854 ;HP:0001889 ;HP:0002013 ;HP:0002015 ;HP:0002071 ;HP:0002179 ;HP:0003149 ;HP:0004322
chrX|133594183|133654543|ENSG00000165704.10|ENSG00000165704.10|HPRT1|HPRT1|Confirmed DD Gene|Hemizygous|Loss of function|gout HPRT-related (GOUT-HPRT)|10579|300323||HP:0000083 ;HP:0000787 ;HP:0001419 ;HP:0001854 ;HP:0003149
chrX|135067598|135129423|ENSG00000198689.5|ENSG00000198689.5|SLC9A6|SLC9A6|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked Christianson type (MRXSC)|10508|300243|10528855 ;20395263 ;18342287|HP:0000020 ;HP:0000194 ;HP:0000252 ;HP:0000275 ;HP:0000276 ;HP:0000303 ;HP:0000400 ;HP:0000486 ;HP:0000574 ;HP:0000602 ;HP:0000774 ;HP:0001181 ;HP:0001238 ;HP:0001263 ;HP:0001272 ;HP:0001371 ;HP:0001423 ;HP:0001760 ;HP:0002015 ;HP:0002078 ;HP:0002300 ;HP:0002307 ;HP:0002360 ;HP:0002487 ;HP:0002529 ;HP:0002607 ;HP:0003189 ;HP:0003202 ;HP:0004325 ;HP:0006794 ;HP:0006887 ;HP:0007207
chrX|135229559|135293518|ENSG00000022267.12|ENSG00000022267.12|FHL1|FHL1|Confirmed DD Gene|Hemizygous|Loss of function|Emery-Dreifuss muscular dystrophy 6, X-linked|10186|300696|19716112 ;19687455 ;18179888|HP:0000470 ;HP:0001371 ;HP:0001419 ;HP:0001639 ;HP:0002093 ;HP:0003236 ;HP:0003306 ;HP:0003418 ;HP:0003676 ;HP:0003691 ;HP:0003701 ;HP:0003704 ;HP:0003805 ;HP:0011675
chrX|135747706|135864247|ENSG00000129675.11|ENSG00000129675.11|ARHGEF6|ARHGEF6|Possible DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 46 |10330|300436||HP:0000407 ;HP:0001249 ;HP:0001419
chrX|136648301|136659850|ENSG00000156925.7|ENSG00000156925.7|ZIC3|ZIC3|Confirmed DD Gene|Hemizygous|Loss of function|Heterotaxy Syndrome|11104|207574||
chrX|136648301|136659850|ENSG00000156925.7|ENSG00000156925.7|ZIC3|ZIC3|Confirmed DD Gene|Hemizygous|All missense/in frame|VACTERL Association, X-Linked, with or without Hydrocephalus|10212|319683||
chrX|139585152|139587225|ENSG00000134595.6|ENSG00000134595.6|SOX3|SOX3|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked with isolated growth hormone deficiency (MRXGH)|10633|300123|8826446|HP:0000821 ;HP:0000871 ;HP:0001256 ;HP:0001263 ;HP:0001417 ;HP:0004322
chrX|139585152|139587225|ENSG00000134595.6|ENSG00000134595.6|SOX3|SOX3|Confirmed DD Gene|X-linked dominant|Cis-regulatory or promotor mutation|sex reversal type 3 (SRXX3)|10226|300833||HP:0001423 ;HP:0012245
chrX|146993469|147032645|ENSG00000102081.9|ENSG00000102081.9|FMR1|FMR1|Both DD and IF|Hemizygous|Loss of function|fragile X syndrome (FRAX)|10389|300624||HP:0000256 ;HP:0000276 ;HP:0000280 ;HP:0000303 ;HP:0000400 ;HP:0000717 ;HP:0000752 ;HP:0000767 ;HP:0000817 ;HP:0001250 ;HP:0001388 ;HP:0001423 ;HP:0001634 ;HP:0001763 ;HP:0002003 ;HP:0002050 ;HP:0002342 ;HP:0002457 ;HP:0002650 ;HP:0003564 ;HP:0003829 ;HP:0007165 ;HP:0008640
chrX|146993469|147032645|ENSG00000102081.9|ENSG00000102081.9|FMR1|FMR1|Both DD and IF|Hemizygous|Activating|fragile X tremor/ataxia syndrome (FXTAS)|10078|300623||HP:0000020 ;HP:0000298 ;HP:0000365 ;HP:0000639 ;HP:0000716 ;HP:0000726 ;HP:0000734 ;HP:0000739 ;HP:0000802 ;HP:0000821 ;HP:0001152 ;HP:0001260 ;HP:0001265 ;HP:0001272 ;HP:0001300 ;HP:0001310 ;HP:0001423 ;HP:0002066 ;HP:0002067 ;HP:0002075 ;HP:0002080 ;HP:0002174 ;HP:0002322 ;HP:0002345 ;HP:0002354 ;HP:0002506 ;HP:0002607 ;HP:0003326 ;HP:0003581 ;HP:0006886 ;HP:0007010 ;HP:0008209 ;HP:0008770
chrX|146993469|147032645|ENSG00000102081.9|ENSG00000102081.9|FMR1|FMR1|Both DD and IF|X-linked dominant|Uncertain|premature ovarian failure syndrome type 1 (POF1)|11313|311360||HP:0000837 ;HP:0000858 ;HP:0001417 ;HP:0001939 ;HP:0008209
chrX|147582139|148082193|ENSG00000155966.9|ENSG00000155966.9|AFF2|AFF2|Confirmed DD Gene|Hemizygous|Loss of function|fragile X-E mental retardation syndrome (FRAXE)|10322|309548|8334699 ;21739600|HP:0000286 ;HP:0000426 ;HP:0000713 ;HP:0000718 ;HP:0000722 ;HP:0000750 ;HP:0000752 ;HP:0001249 ;HP:0001419 ;HP:0001939 ;HP:0100710
chrX|148558521|148615470|ENSG00000010404.13|ENSG00000010404.13|IDS|IDS|Confirmed DD Gene|Hemizygous|Loss of function|mucopolysaccharidosis type 2 (MPS2)|10415|309900|1355630 ;1303211 ;1284597 ;1639384 ;8940265 ;12794697 ;7581397 ;1550586 ;8364592|HP:0000023 ;HP:0000158 ;HP:0000179 ;HP:0000238 ;HP:0000256 ;HP:0000268 ;HP:0000280 ;HP:0000365 ;HP:0000403 ;HP:0000470 ;HP:0000508 ;HP:0000684 ;HP:0000687 ;HP:0000943 ;HP:0000998 ;HP:0001085 ;HP:0001171 ;HP:0001250 ;HP:0001371 ;HP:0001419 ;HP:0001537 ;HP:0001609 ;HP:0001635 ;HP:0001654 ;HP:0001744 ;HP:0001761 ;HP:0002014 ;HP:0002099 ;HP:0002159 ;HP:0002180 ;HP:0002180 ;HP:0002187 ;HP:0002240 ;HP:0002341 ;HP:0002786 ;HP:0002808 ;HP:0002870 ;HP:0003502 ;HP:0004322 ;HP:0004389 ;HP:0007703 ;HP:0007703 ;HP:0008301 ;HP:0008301
chrX|149529689|149682448|ENSG00000013619.9|ENSG00000013619.9|MAMLD1|MAMLD1|Probable DD gene|Hemizygous|Loss of function|X-linked hypospadias type 2 (HYSP2)|10439|300758|17086185|HP:0000808 ;HP:0001419
chrX|149737069|149841795|ENSG00000171100.10|ENSG00000171100.10|MTM1|MTM1|Confirmed DD Gene|Hemizygous|Loss of function|Myotubular myopathy, X-linked	|13419|310400|9285787 ;10790201 ;8640223 ;7611280 ;12707446 ;11552027 ;9450905 ;12859411; 8640223|HP:0000028 ;HP:0000156 ;HP:0000238 ;HP:0000256 ;HP:0000275 ;HP:0000276 ;HP:0000467 ;HP:0000544 ;HP:0001166 ;HP:0001284 ;HP:0001371 ;HP:0001410 ;HP:0001419 ;HP:0001558 ;HP:0001561 ;HP:0002021 ;HP:0002375 ;HP:0002643 ;HP:0003324 ;HP:0003517 ;HP:0004887 ;HP:0006829 ;HP:0009110 ;HP:0010628 ;HP:0011308
chrX|151999511|152038273|ENSG00000147383.6|ENSG00000147383.6|NSDHL|NSDHL|Confirmed DD Gene|X-linked dominant|Loss of function|congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)|10465|308050|10710235 ;11907515|HP:0000126 ;HP:0000204 ;HP:0000347 ;HP:0000365 ;HP:0000773 ;HP:0000835 ;HP:0000882 ;HP:0000894 ;HP:0000962 ;HP:0001036 ;HP:0001256 ;HP:0001371 ;HP:0001374 ;HP:0001423 ;HP:0001425 ;HP:0001537 ;HP:0001596 ;HP:0001597 ;HP:0001671 ;HP:0001750 ;HP:0002089 ;HP:0002564 ;HP:0002650 ;HP:0002977 ;HP:0003462 ;HP:0003465 ;HP:0003826 ;HP:0004322 ;HP:0005990 ;HP:0007431 ;HP:0008417 ;HP:0008678 ;HP:0008839 ;HP:0008839 ;HP:0008883 ;HP:0009815 ;HP:0010655
chrX|151999511|152038273|ENSG00000147383.6|ENSG00000147383.6|NSDHL|NSDHL|Confirmed DD Gene|Hemizygous|Loss of function|CK syndrome (CKS)|10602|300831|19842190 ;19377476|HP:0000156 ;HP:0000252 ;HP:0000272 ;HP:0000275 ;HP:0000276 ;HP:0000278 ;HP:0000286 ;HP:0000347 ;HP:0000358 ;HP:0000426 ;HP:0000486 ;HP:0000582 ;HP:0000678 ;HP:0000718 ;HP:0000737 ;HP:0000750 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001290 ;HP:0001302 ;HP:0001382 ;HP:0001419 ;HP:0001533 ;HP:0002126 ;HP:0002360 ;HP:0002650 ;HP:0002808 ;HP:0003103 ;HP:0003307 ;HP:0007874 ;HP:0011297
chrX|152853377|152865500|ENSG00000147382.14|ENSG00000147382.14|FAM58A|FAM58A|Confirmed DD Gene|Monoallelic|Loss of function|STAR syndrome|10808|300707|8818947 ;18297069|
chrX|152953554|152962048|ENSG00000130821.11|ENSG00000130821.11|SLC6A8|SLC6A8|Confirmed DD Gene|Hemizygous|Loss of function|X-linked creatine deficiency syndrome (XL-CDS)|10504|300352|12210795 ;16738945 ;11898126 ;17101918 ;15154114 ;11326334 ;16086185|HP:0000098 ;HP:0000252 ;HP:0000272 ;HP:0000275 ;HP:0000276 ;HP:0000303 ;HP:0000540 ;HP:0000577 ;HP:0000718 ;HP:0000733 ;HP:0000735 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001270 ;HP:0001319 ;HP:0001382 ;HP:0001419 ;HP:0001508 ;HP:0001761 ;HP:0001939 ;HP:0002013 ;HP:0002019 ;HP:0002251 ;HP:0002595 ;HP:0003593 ;HP:0004322 ;HP:0007018 ;HP:0007057 ;HP:0008583 ;HP:0008872
chrX|152965947|152990152|ENSG00000185825.11|ENSG00000185825.11|BCAP31|BCAP31|Confirmed DD Gene|Hemizygous|Loss of function|Deafness, Dystonia, and Central Hypomyelination with Disorganization of the Golgi Apparatus|13629||24011989|
chrX|152990323|153010216|ENSG00000101986.8|ENSG00000101986.8|ABCD1|ABCD1|Both DD and IF|Hemizygous|Loss of function|Adrenoleukodystrophy, X-Linked|11741|300100||HP:0000135 ;HP:0000365 ;HP:0000618 ;HP:0000802 ;HP:0000924 ;HP:0000953 ;HP:0001258 ;HP:0001271 ;HP:0001350 ;HP:0001417 ;HP:0002070 ;HP:0002078 ;HP:0002839 ;HP:0003455 ;HP:0008207
chrX|153126969|153174677|ENSG00000198910.8|ENSG00000198910.8|L1CAM|L1CAM|Confirmed DD Gene|Hemizygous|Loss of function|hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)|10430|307000|18136715 ;15368500 ;9643285 ;7881431 ;8929944 ;7920659 ;8401576 ;15148591 ;9279760 ;11857550 ;1303258 ;8401593|HP:0000238 ;HP:0000256 ;HP:0001181 ;HP:0001249 ;HP:0001257 ;HP:0001258 ;HP:0001274 ;HP:0001331 ;HP:0001419 ;HP:0002410 ;HP:0007016 ;HP:0009600 ;HP:0009600
chrX|153126969|153174677|ENSG00000198910.8|ENSG00000198910.8|L1CAM|L1CAM|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA)|10584|303350|7920659 ;3460961 ;7920660|HP:0000238 ;HP:0000252 ;HP:0000256 ;HP:0000486 ;HP:0001181 ;HP:0001249 ;HP:0001258 ;HP:0001274 ;HP:0001419 ;HP:0001761 ;HP:0001762 ;HP:0002119 ;HP:0002362 ;HP:0002381 ;HP:0002808 ;HP:0003307 ;HP:0004322
chrX|153126969|153174677|ENSG00000198910.8|ENSG00000198910.8|L1CAM|L1CAM|Confirmed DD Gene|Hemizygous|Loss of function|spastic paraplegia X-linked type 1 (SPG1)|10585|303350|7920659 ;3460961 ;7920660|HP:0000238 ;HP:0000252 ;HP:0000256 ;HP:0000486 ;HP:0001181 ;HP:0001249 ;HP:0001258 ;HP:0001274 ;HP:0001419 ;HP:0001761 ;HP:0001762 ;HP:0002119 ;HP:0002362 ;HP:0002381 ;HP:0002808 ;HP:0003307 ;HP:0004322
chrX|153126969|153174677|ENSG00000198910.8|ENSG00000198910.8|L1CAM|L1CAM|Confirmed DD Gene|Hemizygous|Loss of function|partial agenesis of the corpus callosum (ACCPX)|10586|304100||HP:0000238 ;HP:0000252 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001321 ;HP:0001338 ;HP:0001417 ;HP:0001999 ;HP:0002251 ;HP:0007068
chrX|153194695|153200676|ENSG00000102030.11|ENSG00000102030.11|NAA10|NAA10|Probable DD gene|Hemizygous|All missense/in frame|Ogden Syndrome|12709|300855|21700266|HP:0000023 ;HP:0000028 ;HP:0000215 ;HP:0000270 ;HP:0000308 ;HP:0000400 ;HP:0000430 ;HP:0000494 ;HP:0000520 ;HP:0000535 ;HP:0001276 ;HP:0001419 ;HP:0001582 ;HP:0001629 ;HP:0001631 ;HP:0001664 ;HP:0002000 ;HP:0002059 ;HP:0002213 ;HP:0002650 ;HP:0003717 ;HP:0004415 ;HP:0004755 ;HP:0004756 ;HP:0005288 ;HP:0006682 ;HP:0008897 ;HP:0009762 ;HP:0010055
chrX|153194695|153200676|ENSG00000102030.11|ENSG00000102030.11|NAA10|NAA10|Probable DD gene|Hemizygous|All missense/in frame|Nonpecific severe ID|13440|||
chrX|153213004|153237258|ENSG00000172534.9|ENSG00000172534.9|HCFC1|HCFC1|Confirmed DD Gene|Hemizygous|5 or 3UTR mutation|MENTAL RETARDATION, X-LINKED 3; MRX3|13458|309541|1870093 ;23000143; 23000143|HP:0000248 ;HP:0001249 ;HP:0001417 ;HP:0001419 ;HP:0004322
chrX|153213004|153237258|ENSG00000172534.9|ENSG00000172534.9|HCFC1|HCFC1|Confirmed DD Gene|Hemizygous|Loss of function|Cobalamin Disorder |13635||24011988|
chrX|153287024|153363212|ENSG00000169057.15|ENSG00000169057.15|MECP2|MECP2|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked type 13 (MRXS13)|10589|300055|9377804 ;10232754 ;12615169 ;11007980 ;16966553 ;11807877|HP:0000053 ;HP:0000156 ;HP:0000164 ;HP:0000252 ;HP:0000297 ;HP:0000347 ;HP:0000400 ;HP:0000470 ;HP:0000709 ;HP:0000750 ;HP:0001250 ;HP:0001251 ;HP:0001256 ;HP:0001263 ;HP:0001266 ;HP:0001300 ;HP:0001337 ;HP:0001347 ;HP:0001419 ;HP:0001761 ;HP:0002064 ;HP:0002307 ;HP:0002353 ;HP:0002362 ;HP:0003487 ;HP:0003677 ;HP:0003763 ;HP:0003781
chrX|153287024|153363212|ENSG00000169057.15|ENSG00000169057.15|MECP2|MECP2|Confirmed DD Gene|X-linked dominant|Loss of function|Rett syndrome (RTT)[|10590|312750|18989701 ;10508514 ;16630165 ;11214906 ;10767337 ;11022934 ;10854091 ;19034540 ;11930274 ;10814718 ;12481990 ;15034579 ;11313756 ;15857422 ;5300597 ;10577905|HP:0000164 ;HP:0001250 ;HP:0001257 ;HP:0001332 ;HP:0001423 ;HP:0001773 ;HP:0002019 ;HP:0002020 ;HP:0002066 ;HP:0002078 ;HP:0002120 ;HP:0002187 ;HP:0002333 ;HP:0002353 ;HP:0002376 ;HP:0002650 ;HP:0002808 ;HP:0003202 ;HP:0003763 ;HP:0004322 ;HP:0004326 ;HP:0004879 ;HP:0005135 ;HP:0005184 ;HP:0005484 ;HP:0010521
chrX|153287024|153363212|ENSG00000169057.15|ENSG00000169057.15|MECP2|MECP2|Confirmed DD Gene|Hemizygous|Loss of function|encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2)|10591|300673|11402105 ;11238684|HP:0000253 ;HP:0001250 ;HP:0001263 ;HP:0001298 ;HP:0001336 ;HP:0001347 ;HP:0001419 ;HP:0001508 ;HP:0002020 ;HP:0002063 ;HP:0002093 ;HP:0002104 ;HP:0002126 ;HP:0002353 ;HP:0003577 ;HP:0006887 ;HP:0007110 ;HP:0008872 ;HP:0008936 ;HP:0010864
chrX|153287024|153363212|ENSG00000169057.15|ENSG00000169057.15|MECP2|MECP2|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation syndromic X-linked Lubs type (MRXSL)|10592|300260|15689435|HP:0000028 ;HP:0000160 ;HP:0000164 ;HP:0000248 ;HP:0000252 ;HP:0000256 ;HP:0000272 ;HP:0000297 ;HP:0000369 ;HP:0000400 ;HP:0000716 ;HP:0000739 ;HP:0000817 ;HP:0001250 ;HP:0001251 ;HP:0001344 ;HP:0001419 ;HP:0001939 ;HP:0002015 ;HP:0002019 ;HP:0002020 ;HP:0002063 ;HP:0002072 ;HP:0002191 ;HP:0002205 ;HP:0002307 ;HP:0003676 ;HP:0003763 ;HP:0005280 ;HP:0008947 ;HP:0011344
chrX|153287024|153363212|ENSG00000169057.15|ENSG00000169057.15|MECP2|MECP2|Confirmed DD Gene|Hemizygous|Increased gene dosage|Chromosome Xq28 duplication syndrome	|10269|300815||
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|X-linked dominant|Loss of function|periventricular nodular heterotopia type 1 (PVNH1)|10388|300049|9883725 ;16299064 ;8290091 ;20014127 ;11914408 ;11532987 ;14988809|HP:0001250 ;HP:0001256 ;HP:0001297 ;HP:0001423 ;HP:0001643 ;HP:0001647 ;HP:0002269 ;HP:0002282 ;HP:0003256
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|X-linked dominant|Loss of function|periventricular nodular heterotopia type 4 (PVNH4)|10573|300537|15994863 ;15668422|
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Uncertain|otopalatodigital syndrome type 1 (OPD1)|11307|311300|15940695 ;12612583 ;15654694 ;16596676|HP:0000160 ;HP:0000175 ;HP:0000269 ;HP:0000272 ;HP:0000316 ;HP:0000336 ;HP:0000405 ;HP:0000431 ;HP:0000494 ;HP:0000767 ;HP:0001241 ;HP:0001256 ;HP:0001377 ;HP:0001423 ;HP:0001476 ;HP:0001539 ;HP:0001571 ;HP:0001592 ;HP:0001770 ;HP:0001782 ;HP:0001852 ;HP:0002007 ;HP:0002164 ;HP:0002650 ;HP:0002673 ;HP:0002688 ;HP:0002737 ;HP:0002827 ;HP:0003083 ;HP:0003196 ;HP:0004232 ;HP:0004322 ;HP:0005048 ;HP:0005090 ;HP:0006389 ;HP:0008089 ;HP:0008127 ;HP:0008404 ;HP:0009642 ;HP:0009882 ;HP:0010041 ;HP:0010044 ;HP:0010047 ;HP:0010055 ;HP:0010109
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Uncertain|otopalatodigital syndrome type 2 (OPD2)|11308|304120|17431908 ;12612583|HP:0000028 ;HP:0000047 ;HP:0000126 ;HP:0000160 ;HP:0000175 ;HP:0000238 ;HP:0000260 ;HP:0000272 ;HP:0000283 ;HP:0000316 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000405 ;HP:0000494 ;HP:0000767 ;HP:0000773 ;HP:0000774 ;HP:0000926 ;HP:0000946 ;HP:0001162 ;HP:0001249 ;HP:0001374 ;HP:0001423 ;HP:0001476 ;HP:0001539 ;HP:0001770 ;HP:0001782 ;HP:0001838 ;HP:0002007 ;HP:0002093 ;HP:0002645 ;HP:0002694 ;HP:0002980 ;HP:0002982 ;HP:0002986 ;HP:0003031 ;HP:0003304 ;HP:0003826 ;HP:0004322 ;HP:0004986 ;HP:0005280 ;HP:0006160 ;HP:0008087 ;HP:0008897 ;HP:0009467 ;HP:0009778 ;HP:0010049 ;HP:0010055 ;HP:0010109 ;HP:0010557 ;HP:0010559 ;HP:0010560 ;HP:0010743 ;HP:0011220 ;HP:0011304
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Uncertain|frontometaphyseal dysplasia (FMD)|11309|305620|12612583|HP:0000072 ;HP:0000126 ;HP:0000218 ;HP:0000280 ;HP:0000307 ;HP:0000316 ;HP:0000331 ;HP:0000336 ;HP:0000407 ;HP:0000431 ;HP:0000494 ;HP:0000684 ;HP:0000689 ;HP:0001007 ;HP:0001166 ;HP:0001239 ;HP:0001249 ;HP:0001419 ;HP:0001592 ;HP:0001634 ;HP:0001648 ;HP:0001833 ;HP:0002650 ;HP:0002673 ;HP:0002700 ;HP:0002857 ;HP:0002949 ;HP:0002987 ;HP:0003202 ;HP:0003691 ;HP:0003779 ;HP:0004608 ;HP:0006155 ;HP:0006207 ;HP:0006335 ;HP:0006380 ;HP:0006440 ;HP:0006466 ;HP:0006665 ;HP:0008097 ;HP:0009768 ;HP:0010307 ;HP:0100490
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|X-linked dominant|Uncertain|Melnick-Needles syndrome (MNS)|11310|309350|12612583|HP:0000071 ;HP:0000126 ;HP:0000175 ;HP:0000270 ;HP:0000274 ;HP:0000316 ;HP:0000336 ;HP:0000347 ;HP:0000400 ;HP:0000403 ;HP:0000472 ;HP:0000486 ;HP:0000520 ;HP:0000684 ;HP:0000692 ;HP:0000767 ;HP:0000774 ;HP:0000882 ;HP:0000894 ;HP:0001270 ;HP:0001288 ;HP:0001377 ;HP:0001423 ;HP:0001508 ;HP:0001539 ;HP:0001609 ;HP:0001634 ;HP:0001704 ;HP:0001762 ;HP:0001763 ;HP:0002092 ;HP:0002205 ;HP:0002208 ;HP:0002673 ;HP:0002751 ;HP:0002827 ;HP:0002857 ;HP:0002982 ;HP:0003015 ;HP:0003826 ;HP:0004611 ;HP:0005446 ;HP:0005792 ;HP:0009771 ;HP:0009882 ;HP:0010230 ;HP:0011335
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Loss of function|X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX)|10574|300048|8644737 ;23037936|HP:0000126 ;HP:0000316 ;HP:0000319 ;HP:0000369 ;HP:0000494 ;HP:0001250 ;HP:0001264 ;HP:0001419 ;HP:0001643 ;HP:0001873 ;HP:0002013 ;HP:0002021 ;HP:0002566 ;HP:0003270 ;HP:0003593 ;HP:0004389 ;HP:0008872 ;HP:0011877
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Uncertain|FG syndrome type 2 (FGS2)|11311|300321|17632775|HP:0000750 ;HP:0001319 ;HP:0001417 ;HP:0002003 ;HP:0002019 ;HP:0011246
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Loss of function|terminal osseous dysplasia (TOD)|10575|300244|10982965|HP:0000190 ;HP:0000272 ;HP:0000316 ;HP:0000369 ;HP:0000508 ;HP:0000612 ;HP:0001000 ;HP:0001156 ;HP:0001831 ;HP:0001836 ;HP:0001863 ;HP:0002828 ;HP:0004987 ;HP:0005011 ;HP:0005921 ;HP:0010614 ;HP:0010675 ;HP:0011355 ;HP:0100490
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|Hemizygous|Uncertain|cardiac valvular dysplasia X-linked (CVDX)|11312|314400|17190868 ;8230166|HP:0001419 ;HP:0001634 ;HP:0001635 ;HP:0001653 ;HP:0001659 ;HP:0001939 ;HP:0005180 ;HP:0006692 ;HP:0011580
chrX|153576892|153603006|ENSG00000196924.10|ENSG00000196924.10|FLNA|FLNA|Confirmed DD Gene|X-linked dominant|All missense/in frame|Epileptic encephalopathy|13605||23934111|
chrX|153639854|153650065|ENSG00000102125.11|ENSG00000102125.11|TAZ|TAZ|Confirmed DD Gene|Hemizygous|Loss of function|BARTH SYNDROME; BTHS|13197|302060|8630491|HP:0000293 ;HP:0000303 ;HP:0000311 ;HP:0000400 ;HP:0000490 ;HP:0001270 ;HP:0001288 ;HP:0001419 ;HP:0001508 ;HP:0001510 ;HP:0001635 ;HP:0001639 ;HP:0001644 ;HP:0001706 ;HP:0001762 ;HP:0001875 ;HP:0001913 ;HP:0002058 ;HP:0003546 ;HP:0003756 ;HP:0004913 ;HP:0005437 ;HP:0008322 ;HP:0011675
chrX|153665266|153671814|ENSG00000203879.7|ENSG00000203879.7|GDI1|GDI1|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 41 (MRX41)|10403|300104||
chrX|153665266|153671814|ENSG00000203879.7|ENSG00000203879.7|GDI1|GDI1|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 48 (MRX48)|10576|300104||
chrX|153769414|153796782|ENSG00000073009.8|ENSG00000073009.8|IKBKG|IKBKG|Confirmed DD Gene|Hemizygous|Loss of function|ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID)|10907|300291|11242109 ;11224521 ;117248 ;16228229 ;14726382 ;12045264 ;11047757|HP:0000968 ;HP:0001419 ;HP:0002719 ;HP:0002961
chrX|153769414|153796782|ENSG00000073009.8|ENSG00000073009.8|IKBKG|IKBKG|Confirmed DD Gene|Hemizygous|Loss of function|ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphedema (OLEDAID)|10908|300301||HP:0000968 ;HP:0001004 ;HP:0002719 ;HP:0002721 ;HP:0011002
chrX|153769414|153796782|ENSG00000073009.8|ENSG00000073009.8|IKBKG|IKBKG|Confirmed DD Gene|Hemizygous|Loss of function|immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID)|10909|300584|15577852 ;15356572|HP:0001419 ;HP:0002720 ;HP:0002847 ;HP:0003496 ;HP:0004315 ;HP:0011275
chrX|153769414|153796782|ENSG00000073009.8|ENSG00000073009.8|IKBKG|IKBKG|Confirmed DD Gene|Hemizygous|Loss of function|susceptibility to X-linked familial atypical micobacteriosis type 1|10910|300636|16818673|
chrX|153769414|153796782|ENSG00000073009.8|ENSG00000073009.8|IKBKG|IKBKG|Confirmed DD Gene|Monoallelic|Loss of function|incontinentia pigmenti (IP)|10911|308300|9450877 ;10839543|HP:0000252 ;HP:0000486 ;HP:0000491 ;HP:0000518 ;HP:0000541 ;HP:0000554 ;HP:0000568 ;HP:0000573 ;HP:0000648 ;HP:0000668 ;HP:0000684 ;HP:0000962 ;HP:0001000 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001423 ;HP:0001803 ;HP:0001805 ;HP:0001807 ;HP:0001880 ;HP:0002164 ;HP:0002208 ;HP:0002213 ;HP:0002557 ;HP:0002558 ;HP:0002751 ;HP:0002937 ;HP:0003187 ;HP:0004322 ;HP:0004529 ;HP:0005815 ;HP:0007850 ;HP:0008070 ;HP:0008404 ;HP:0010783 ;HP:0100699 ;HP:0100783
chrX|153991031|154005964|ENSG00000130826.11|ENSG00000130826.11|DKC1|DKC1|Confirmed DD Gene|Hemizygous|Loss of function|DKC1-Related Dyskeratosis Congenita|11024|314912||
chrX|154487526|154493874|ENSG00000155961.4|ENSG00000155961.4|RAB39B|RAB39B|Confirmed DD Gene|Hemizygous|Loss of function|mental retardation X-linked type 72 (MRX72)|10496|300271|20159109 ;11050621|HP:0000256 ;HP:0000268 ;HP:0000276 ;HP:0000733 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001419
chrY|2654896|2655740|ENSG00000184895.6|ENSG00000184895.6|SRY|SRY|Confirmed DD Gene|Hemizygous|Loss of function|46XY sex reversal 1|10773|400044|1956279 ;2247149 ;9443877 ;9521592 ;7985018 ;1339396 ;7987333 ;2247151 ;1483689 ;12107262 ;1639410 ;1619028 ;10852465 ;9150734 ;1570829 ;8105086|HP:0000037 ;HP:0000055 ;HP:0000098 ;HP:0000133 ;HP:0000786 ;HP:0008187 ;HP:0012245
chr3|3190676|3221394|ENSG00000113851.9|ENSG00000113851.9|CRBN|CRBN|Possible DD Gene|Biallelic|Loss of function| mental retardation autosomal recessive type 2A (MRT2A) |10363|607417|18414909|HP:0000007 ;HP:0001256 ;HP:0001263
chr3|3742498|4508965|ENSG00000144455.9|ENSG00000144455.9|SUMF1|SUMF1|Confirmed DD Gene|Biallelic|Loss of function|Sulfatidosis, Juvenile, Austin Type|13190|272200|12757706 ;12757705 ;21224894|HP:0000007 ;HP:0000238 ;HP:0000280 ;HP:0000365 ;HP:0000463 ;HP:0000546 ;HP:0000943 ;HP:0001249 ;HP:0001251 ;HP:0001257 ;HP:0001263 ;HP:0001272 ;HP:0001319 ;HP:0001744 ;HP:0002003 ;HP:0002059 ;HP:0002119 ;HP:0002240 ;HP:0002395 ;HP:0002518 ;HP:0002922 ;HP:0004322 ;HP:0007305 ;HP:0007307 ;HP:0007957 ;HP:0008064 ;HP:0008155 ;HP:0008479 ;HP:0010055 ;HP:0011096 ;HP:0011220 ;HP:0011304 ;HP:0100539
chr3|4535032|4889524|ENSG00000150995.13|ENSG00000150995.13|ITPR1|ITPR1|Probable DD gene|Monoallelic|Loss of function|Spinocerebellar Ataxia Type15|12508|606658|17932120|HP:0000006 ;HP:0000641 ;HP:0001260 ;HP:0001272 ;HP:0001347 ;HP:0002066 ;HP:0002070 ;HP:0002078 ;HP:0002168 ;HP:0002174 ;HP:0002345 ;HP:0003581 ;HP:0003621 ;HP:0003677 ;HP:0007772 ;HP:0007979
chr3|4535032|4889524|ENSG00000150995.13|ENSG00000150995.13|ITPR1|ITPR1|Probable DD gene|Monoallelic|All missense/in frame|Spinocerebellar ataxia 29, congenital nonprogressive|13531|117360|22986007|HP:0000006 ;HP:0000639 ;HP:0001251 ;HP:0001260 ;HP:0001270 ;HP:0001310 ;HP:0002070 ;HP:0002075 ;HP:0002080 ;HP:0002136 ;HP:0002470 ;HP:0003577 ;HP:0003812 ;HP:0006855 ;HP:0006855
chr3|9022275|9404737|ENSG00000196220.11|ENSG00000196220.11|SRGAP3|SRGAP3|Possible DD Gene|Uncertain|Uncertain|SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 3; SRGAP3|11281|606525||
chr3|9439299|9520924|ENSG00000168137.11|ENSG00000168137.11|SETD5|SETD5|Confirmed DD Gene|Monoallelic|Loss of function|Mental retardation, autosomal dominant 23|13735|615761|24680889|
chr3|9691117|9744077|ENSG00000163719.14|ENSG00000163719.14|MTMR14|MTMR14|Possible DD Gene|Digenic|All missense/in frame|Centronuclear myopathy, autosomal, modifier of	|13627|160150||HP:0000006 ;HP:0000508 ;HP:0000544 ;HP:0001270 ;HP:0001284 ;HP:0001371 ;HP:0001939 ;HP:0002460 ;HP:0003198 ;HP:0003388 ;HP:0003677 ;HP:0003687 ;HP:0003701 ;HP:0003712 ;HP:0005335 ;HP:0010628
chr3|9975506|9987097|ENSG00000163703.13|ENSG00000163703.13|CRELD1|CRELD1|Probable DD gene|Monoallelic|All missense/in frame|Heterotaxy Syndrome|10196|207574||
chr3|10068098|10143614|ENSG00000144554.6|ENSG00000144554.6|FANCD2|FANCD2|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia, complementation group D2|10655|227646|11239453|HP:0000007 ;HP:0000028 ;HP:0000081 ;HP:0000085 ;HP:0000086 ;HP:0000104 ;HP:0000252 ;HP:0000365 ;HP:0000486 ;HP:0000568 ;HP:0000792 ;HP:0000815 ;HP:0000957 ;HP:0000978 ;HP:0001017 ;HP:0001249 ;HP:0001518 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001896 ;HP:0001903 ;HP:0001909 ;HP:0002564 ;HP:0003213 ;HP:0003214 ;HP:0003221 ;HP:0003974 ;HP:0004322 ;HP:0009777 ;HP:0009778 ;HP:0009943
chr3|12525931|12581122|ENSG00000154743.13|ENSG00000154743.13|TSEN2|TSEN2|Probable DD gene|Biallelic|All missense/in frame|Pontocerebellar Hypoplasia Type 2 and Type 4|10208|316970||
chr3|12625100|12705725|ENSG00000132155.7|ENSG00000132155.7|RAF1|RAF1|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome 5|10094|611553|17603483|HP:0000006 ;HP:0000465 ;HP:0000470 ;HP:0000766 ;HP:0001263 ;HP:0001631 ;HP:0001639 ;HP:0001999 ;HP:0004322
chr3|13857755|13921618|ENSG00000154764.5|ENSG00000154764.5|WNT7A|WNT7A|Confirmed DD Gene|Biallelic|Uncertain|limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)|11290|276820|21344627 ;21271649 ;20949531 ;16826533|HP:0000007 ;HP:0000028 ;HP:0000046 ;HP:0000047 ;HP:0000151 ;HP:0000189 ;HP:0000218 ;HP:0000276 ;HP:0000286 ;HP:0000369 ;HP:0000377 ;HP:0000431 ;HP:0000470 ;HP:0000475 ;HP:0000768 ;HP:0000884 ;HP:0000885 ;HP:0000916 ;HP:0001171 ;HP:0001180 ;HP:0001552 ;HP:0001773 ;HP:0001798 ;HP:0001849 ;HP:0001964 ;HP:0002436 ;HP:0002557 ;HP:0002827 ;HP:0002937 ;HP:0002980 ;HP:0002984 ;HP:0002986 ;HP:0002987 ;HP:0002990 ;HP:0003041 ;HP:0003070 ;HP:0003252 ;HP:0003498 ;HP:0003982 ;HP:0004231 ;HP:0005474 ;HP:0005613 ;HP:0005914 ;HP:0006502 ;HP:0006585 ;HP:0008363 ;HP:0008817 ;HP:0009104 ;HP:0009767 ;HP:0009829 ;HP:0010173 ;HP:0010769
chr3|13857755|13921618|ENSG00000154764.5|ENSG00000154764.5|WNT7A|WNT7A|Confirmed DD Gene|Biallelic|Uncertain|Fuhrmann syndrome (FUHRS)|11362|228930|9128926|HP:0000007 ;HP:0000141 ;HP:0001162 ;HP:0001180 ;HP:0001374 ;HP:0001762 ;HP:0001770 ;HP:0001802 ;HP:0001849 ;HP:0001964 ;HP:0002866 ;HP:0002980 ;HP:0002984 ;HP:0002986 ;HP:0004322 ;HP:0005613 ;HP:0005914 ;HP:0006101 ;HP:0006143 ;HP:0006262 ;HP:0006443 ;HP:0006492 ;HP:0006495 ;HP:0008839 ;HP:0009465 ;HP:0009767
chr3|14186647|14220283|ENSG00000154767.10|ENSG00000154767.10|XPC|XPC|Confirmed DD Gene|Biallelic|Loss of function|Xeroderma pigmentosum, group C|10651|278720|19478817 ;11511294 ;9804340 ;14662655 ;8298653 ;11121128|HP:0000007 ;HP:0000491 ;HP:0000509 ;HP:0000613 ;HP:0000621 ;HP:0000656 ;HP:0000992 ;HP:0001009 ;HP:0001010 ;HP:0001029 ;HP:0002671 ;HP:0003079 ;HP:0004334 ;HP:0006739 ;HP:0011463 ;HP:0012056
chr3|15642848|15687329|ENSG00000169814.8|ENSG00000169814.8|BTD|BTD|Confirmed DD Gene|Biallelic|Loss of function|biotinidase deficiency|10946|253260|10801053 ;8894703 ;9099842 ;7550325 ;9158148 ;9705240 ;9375914|HP:0000007 ;HP:0000407 ;HP:0000509 ;HP:0000572 ;HP:0000648 ;HP:0000988 ;HP:0001051 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001581 ;HP:0001596 ;HP:0001744 ;HP:0001987 ;HP:0001992 ;HP:0002013 ;HP:0002014 ;HP:0002104 ;HP:0002240 ;HP:0002506 ;HP:0002789 ;HP:0005979 ;HP:0008872 ;HP:0100275
chr3|25215823|25639423|ENSG00000077092.14|ENSG00000077092.14|RARB|RARB|Confirmed DD Gene|Biallelic|Loss of function|Microphthalmia and Diaphragmatic Hernia|13660||24075189|
chr3|25215823|25639423|ENSG00000077092.14|ENSG00000077092.14|RARB|RARB|Confirmed DD Gene|Monoallelic|Dominant negative|Microphthalmia and Diaphragmatic Hernia|13661||24075189|
chr3|27757440|27764206|ENSG00000163508.8|ENSG00000163508.8|EOMES|EOMES|Possible DD Gene|Biallelic|Loss of function|polymicrogyria and corpus callosum agenesis|10802|||
chr3|30647994|30735634|ENSG00000163513.13|ENSG00000163513.13|TGFBR2|TGFBR2|Confirmed DD Gene|Monoallelic|Loss of function|Loeys-Dietz Syndrome|11090|279910||
chr3|30647994|30735634|ENSG00000163513.13|ENSG00000163513.13|TGFBR2|TGFBR2|Confirmed DD Gene|Monoallelic|Loss of function|TGFBR2-Related Loeys-Dietz Syndrome|11091|249163||
chr3|33038100|33138722|ENSG00000170266.11|ENSG00000170266.11|GLB1|GLB1|Confirmed DD Gene|Biallelic|Loss of function|GM1-gangliosidosis type 1 (GM1G1)|10833|230500|8213816 ;10841810 ;10737981 ;8199591 ;1909089 ;1606711 ;1928092 ;1907800|HP:0000007 ;HP:0000023 ;HP:0000079 ;HP:0000212 ;HP:0000280 ;HP:0000316 ;HP:0000457 ;HP:0000470 ;HP:0000900 ;HP:0000998 ;HP:0001071 ;HP:0001249 ;HP:0001387 ;HP:0001522 ;HP:0001635 ;HP:0001639 ;HP:0001644 ;HP:0001654 ;HP:0001744 ;HP:0001922 ;HP:0002007 ;HP:0002240 ;HP:0002650 ;HP:0002808 ;HP:0003510 ;HP:0004568 ;HP:0007313 ;HP:0008166 ;HP:0008479 ;HP:0010729
chr3|33038100|33138722|ENSG00000170266.11|ENSG00000170266.11|GLB1|GLB1|Confirmed DD Gene|Biallelic|Loss of function|GM1-gangliosidosis type 2 (GM1G2)|10834|230600|12644936 ;1909089|HP:0000007 ;HP:0000271 ;HP:0000648 ;HP:0000926 ;HP:0001251 ;HP:0001288 ;HP:0001392 ;HP:0001743 ;HP:0001982 ;HP:0002059 ;HP:0002119 ;HP:0002123 ;HP:0002510 ;HP:0002673 ;HP:0007272 ;HP:0007281 ;HP:0007281 ;HP:0008166 ;HP:0008166
chr3|33038100|33138722|ENSG00000170266.11|ENSG00000170266.11|GLB1|GLB1|Confirmed DD Gene|Biallelic|Loss of function|GM1-gangliosidosis type 3 (GM1G3)|10835|230650|8198123 ;1909089 ;1907800|HP:0000007 ;HP:0000271 ;HP:0000926 ;HP:0001256 ;HP:0001332 ;HP:0001350 ;HP:0001871 ;HP:0002506 ;HP:0002650 ;HP:0002808 ;HP:0002869 ;HP:0003202 ;HP:0003274 ;HP:0003651 ;HP:0004322 ;HP:0007759 ;HP:0008166 ;HP:0008430
chr3|33038100|33138722|ENSG00000170266.11|ENSG00000170266.11|GLB1|GLB1|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 4B (MPS4B)|10836|253010|10841810 ;7586649 ;1928092 ;11511921|HP:0000007 ;HP:0000023 ;HP:0000154 ;HP:0000280 ;HP:0000303 ;HP:0000365 ;HP:0000670 ;HP:0000683 ;HP:0000687 ;HP:0000884 ;HP:0000904 ;HP:0000926 ;HP:0000939 ;HP:0001223 ;HP:0001388 ;HP:0001650 ;HP:0002091 ;HP:0002240 ;HP:0002318 ;HP:0002650 ;HP:0002673 ;HP:0002788 ;HP:0002808 ;HP:0002857 ;HP:0003016 ;HP:0003049 ;HP:0003053 ;HP:0003277 ;HP:0003300 ;HP:0003307 ;HP:0003308 ;HP:0003311 ;HP:0003521 ;HP:0003621 ;HP:0005292 ;HP:0007759 ;HP:0008166 ;HP:0012069
chr3|38495342|38534633|ENSG00000114739.9|ENSG00000114739.9|ACVR2B|ACVR2B|Possible DD Gene|Monoallelic|All missense/in frame|Heterotaxy Syndrome|10195|207574||
chr3|38887260|38992052|ENSG00000168356.7|ENSG00000168356.7|SCN11A|SCN11A|Confirmed DD Gene|Monoallelic|Activating|congenital inability to experience pain|13676||24036948|
chr3|39424839|39438842|ENSG00000144659.6|ENSG00000144659.6|SLC25A38|SLC25A38|Confirmed DD Gene|Biallelic|Loss of function|Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|10818|205950|19412178|HP:0000007 ;HP:0001425 ;HP:0001903 ;HP:0003281 ;HP:0003593
chr3|41236328|41301587|ENSG00000168036.12|ENSG00000168036.12|CTNNB1|CTNNB1|Confirmed DD Gene|Monoallelic|Loss of function|Mental retardation, autosomal dominant 19	|13614|615075||
chr3|42727011|42734036|ENSG00000157119.11|ENSG00000157119.11|KLHL40|KLHL40|Confirmed DD Gene|Biallelic|Loss of function|Nemaline myopathy 8, autosomal recessive	|13641|615348|23746549|
chr3|43120724|43147568|NA|NA|GTDC2|GTDC2|Confirmed DD Gene|Biallelic|Loss of function|Walker Warberg syndrome|13411|614830|22958903; 22958903|HP:0000007 ;HP:0000238 ;HP:0000568 ;HP:0001263 ;HP:0001321 ;HP:0002119 ;HP:0007260 ;HP:0007973
chr3|43731605|43775863|ENSG00000011198.3|ENSG00000011198.3|ABHD5|ABHD5|Confirmed DD Gene|Biallelic|Loss of function|Chanarin-Dorfman syndrome (CDS)|11398|275630|11590543; 11590543|HP:0000007 ;HP:0000232 ;HP:0000407 ;HP:0000486 ;HP:0000523 ;HP:0000639 ;HP:0000656 ;HP:0001249 ;HP:0001251 ;HP:0001324 ;HP:0001397 ;HP:0001596 ;HP:0001871 ;HP:0002240 ;HP:0003198 ;HP:0007479 ;HP:0008551
chr3|45429998|45590913|ENSG00000011376.5|ENSG00000011376.5|LARS2|LARS2|Probable DD gene|Biallelic|All missense/in frame|Perrault syndrome|13526||23541342 |
chr3|45959396|46037316|ENSG00000163820.10|ENSG00000163820.10|FYCO1|FYCO1|Confirmed DD Gene|Biallelic|Loss of function|Cataract, autosomal recessive congenital 2|10762|610019|21636066 ;11519376|HP:0000007
chr3|46919236|46945287|ENSG00000160801.9|ENSG00000160801.9|PTH1R|PTH1R|Confirmed DD Gene|Monoallelic|Activating|Jansen metaphyseal chondrodysplasia (JMC)|10102|156400|15240651 ;7701349 ;10487664 ;8703170|HP:0000006 ;HP:0000121 ;HP:0000248 ;HP:0000316 ;HP:0000347 ;HP:0000365 ;HP:0000452 ;HP:0000453 ;HP:0000520 ;HP:0000692 ;HP:0000773 ;HP:0000829 ;HP:0000938 ;HP:0002148 ;HP:0002150 ;HP:0002515 ;HP:0002737 ;HP:0002756 ;HP:0003021 ;HP:0003026 ;HP:0003072 ;HP:0003109 ;HP:0003155 ;HP:0003273 ;HP:0003510 ;HP:0004209 ;HP:0004676 ;HP:0005871 ;HP:0006380 ;HP:0006487 ;HP:0100759
chr3|46919236|46945287|ENSG00000160801.9|ENSG00000160801.9|PTH1R|PTH1R|Confirmed DD Gene|Biallelic|Loss of function|chondrodysplasia Blomstrand type (BOCD)|10924|215045|3975110 ;17164305 ;9649554 ;10523019 ;9745456|HP:0000007 ;HP:0000272 ;HP:0000347 ;HP:0000773 ;HP:0001561 ;HP:0001622 ;HP:0001789 ;HP:0002983 ;HP:0003015 ;HP:0003177 ;HP:0003826 ;HP:0004233 ;HP:0005616 ;HP:0005789 ;HP:0008108 ;HP:0008754
chr3|46919236|46945287|ENSG00000160801.9|ENSG00000160801.9|PTH1R|PTH1R|Confirmed DD Gene|Biallelic|Loss of function|Eiken skeletal dysplasia (EISD)|10925|600002|15525660|HP:0000007 ;HP:0002652 ;HP:0002663
chr3|46919236|46945287|ENSG00000160801.9|ENSG00000160801.9|PTH1R|PTH1R|Confirmed DD Gene|Monoallelic|Loss of function|primary failure of tooth eruption (PFE)|10926|125350|19061984|HP:0000006 ;HP:0000668 ;HP:0006335 ;HP:0006352
chr3|48506445|48509044|ENSG00000213689.5|ENSG00000213689.5|TREX1|TREX1|Confirmed DD Gene|Biallelic|Loss of function|Aicardi-Goutieres syndrome 1, dominant and recessive|10791|225750|16845398 ;17357087|HP:0000006 ;HP:0000007 ;HP:0000253 ;HP:0000486 ;HP:0000639 ;HP:0000967 ;HP:0000979 ;HP:0001063 ;HP:0001250 ;HP:0001257 ;HP:0001263 ;HP:0001332 ;HP:0001433 ;HP:0001744 ;HP:0001873 ;HP:0001945 ;HP:0002059 ;HP:0002062 ;HP:0002071 ;HP:0002135 ;HP:0002135 ;HP:0002187 ;HP:0002240 ;HP:0002352 ;HP:0002421 ;HP:0002448 ;HP:0002910 ;HP:0004394 ;HP:0006579 ;HP:0007321 ;HP:0008872 ;HP:0008936 ;HP:0009704 ;HP:0009709 ;HP:0009710
chr3|48894369|48936426|ENSG00000178537.5|ENSG00000178537.5|SLC25A20|SLC25A20|Confirmed DD Gene|Biallelic|Loss of function|Carnitine-Acylcarnitine Translocase Deficiency|13128|212138|12859414 ;10384384 ;9399886 ;9686371 ;10697964|HP:0000007 ;HP:0001250 ;HP:0001324 ;HP:0001638 ;HP:0001662 ;HP:0001678 ;HP:0001714 ;HP:0001943 ;HP:0001987 ;HP:0002240 ;HP:0002615 ;HP:0004756 ;HP:0006543 ;HP:0006682
chr3|49133365|49142553|ENSG00000172053.10|ENSG00000172053.10|QARS|QARS|Probable DD gene|Biallelic|All missense/in frame|Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy|13733|615760|24656866|
chr3|49454211|49460186|ENSG00000145020.10|ENSG00000145020.10|AMT|AMT|Confirmed DD Gene|Biallelic|Loss of function|Glycine encephalopathy	|13582|605899||HP:0000007 ;HP:0000711 ;HP:0000718 ;HP:0000737 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001265 ;HP:0001274 ;HP:0001336 ;HP:0001347 ;HP:0001522 ;HP:0002154 ;HP:0003108 ;HP:0008288 ;HP:0100247 ;HP:0100710
chr3|49506146|49573048|ENSG00000173402.7|ENSG00000173402.7|DAG1|DAG1|Confirmed DD Gene|Biallelic|All missense/in frame|muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7)|11247|613818|21388311|HP:0000007 ;HP:0000750 ;HP:0001249 ;HP:0001263 ;HP:0002938 ;HP:0003236 ;HP:0003325 ;HP:0003391 ;HP:0006466
chr3|49754277|49761384|ENSG00000173540.8|ENSG00000173540.8|GMPPB|GMPPB|Confirmed DD Gene|Biallelic|All missense/in frame|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	|13642|615350|23768512|
chr3|50337320|50349812|ENSG00000114378.12|ENSG00000114378.12|HYAL1|HYAL1|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 9 (MPS9)|10857|601492|8793927|HP:0000007 ;HP:0000176 ;HP:0000193 ;HP:0000403 ;HP:0000951 ;HP:0002159 ;HP:0003170 ;HP:0004322 ;HP:0005280 ;HP:0012069
chr3|50378541|50384283|ENSG00000004838.9|ENSG00000004838.9|ZMYND10|ZMYND10|Probable DD gene|Biallelic|Loss of function|primary ciliary dyskinesia-22 (CILD22)|13657|615444|23891471|
chr3|52009066|52023213|ENSG00000243989.3|ENSG00000243989.3|ACY1|ACY1|Confirmed DD Gene|Biallelic|Loss of function|aminoacylase-1 deficiency|11154|609924|16465618 ;17562838 ;16274666|HP:0000007 ;HP:0000316 ;HP:0000407 ;HP:0000431 ;HP:0000752 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001272 ;HP:0001324 ;HP:0002059 ;HP:0002188 ;HP:0003812 ;HP:0006846
chr3|52109269|52188706|ENSG00000164087.3|ENSG00000164087.3|POC1A|POC1A|Confirmed DD Gene|Biallelic|Loss of function|Primordial Dwarfism|13397|614813|22840364 ;22440536; 22840364|HP:0000007 ;HP:0000060 ;HP:0000164 ;HP:0000252 ;HP:0000256 ;HP:0000276 ;HP:0000303 ;HP:0000307 ;HP:0000316 ;HP:0000325 ;HP:0000448 ;HP:0000490 ;HP:0000798 ;HP:0000819 ;HP:0001263 ;HP:0001518 ;HP:0001620 ;HP:0001792 ;HP:0002376 ;HP:0002515 ;HP:0003187 ;HP:0003498 ;HP:0004590 ;HP:0008070 ;HP:0008551 ;HP:0008839 ;HP:0009882 ;HP:0010049 ;HP:0010579 ;HP:0010743 ;HP:0011220 ;HP:0100864 ;HP:0200055
chr3|52109269|52188706|ENSG00000164087.3|ENSG00000164087.3|POC1A|POC1A|Confirmed DD Gene|Biallelic|All missense/in frame|Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome|13398|614813|22840364 ;22440536; 22840363|HP:0000007 ;HP:0000060 ;HP:0000164 ;HP:0000252 ;HP:0000256 ;HP:0000276 ;HP:0000303 ;HP:0000307 ;HP:0000316 ;HP:0000325 ;HP:0000448 ;HP:0000490 ;HP:0000798 ;HP:0000819 ;HP:0001263 ;HP:0001518 ;HP:0001620 ;HP:0001792 ;HP:0002376 ;HP:0002515 ;HP:0003187 ;HP:0003498 ;HP:0004590 ;HP:0008070 ;HP:0008551 ;HP:0008839 ;HP:0009882 ;HP:0010049 ;HP:0010579 ;HP:0010743 ;HP:0011220 ;HP:0100864 ;HP:0200055
chr3|53122499|53164478|ENSG00000163933.5|ENSG00000163933.5|RFT1|RFT1|Probable DD gene|Biallelic|Loss of function|congenital disorder of glycosylation type 1N|10998|612015|18313027|HP:0000007 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0002240 ;HP:0003160 ;HP:0003256
chr3|55499743|55523973|ENSG00000114251.9|ENSG00000114251.9|WNT5A|WNT5A|Confirmed DD Gene|Monoallelic|All missense/in frame|WNT5A-Related Robinow Syndrome, Autosomal Dominant|13351|180700|19918918 ;5771504|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000054 ;HP:0000059 ;HP:0000060 ;HP:0000075 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000202 ;HP:0000207 ;HP:0000212 ;HP:0000219 ;HP:0000256 ;HP:0000260 ;HP:0000272 ;HP:0000278 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000463 ;HP:0000470 ;HP:0000494 ;HP:0000520 ;HP:0000527 ;HP:0000582 ;HP:0000637 ;HP:0000678 ;HP:0000684 ;HP:0000767 ;HP:0001052 ;HP:0001249 ;HP:0001263 ;HP:0001537 ;HP:0001705 ;HP:0001837 ;HP:0001853 ;HP:0002007 ;HP:0002164 ;HP:0002714 ;HP:0002750 ;HP:0003027 ;HP:0003196 ;HP:0004220 ;HP:0004279 ;HP:0004322 ;HP:0005280 ;HP:0008905 ;HP:0009466 ;HP:0009883 ;HP:0010290 ;HP:0010297 ;HP:0011304 ;HP:0200055 ;HP:0200086
chr3|57231944|57260549|ENSG00000163666.4|ENSG00000163666.4|HESX1|HESX1|Probable DD gene|Both|Loss of function|HESX1-Related Combined Pituitary Hormone Deficiency|11043|319358||
chr3|57231944|57260549|ENSG00000163666.4|ENSG00000163666.4|HESX1|HESX1|Probable DD gene|Both|Loss of function|Septooptic Dysplasia|11044|256657||
chr3|57994127|58157982|ENSG00000136068.10|ENSG00000136068.10|FLNB|FLNB|Confirmed DD Gene|Monoallelic|Activating|atelosteogenesis type 1 (AO1)|10098|108720|14991055|HP:0000028 ;HP:0000175 ;HP:0000272 ;HP:0000347 ;HP:0000470 ;HP:0000520 ;HP:0000878 ;HP:0001156 ;HP:0001217 ;HP:0001547 ;HP:0001561 ;HP:0001602 ;HP:0001622 ;HP:0001762 ;HP:0001939 ;HP:0002007 ;HP:0002084 ;HP:0002949 ;HP:0002982 ;HP:0002986 ;HP:0002990 ;HP:0003042 ;HP:0003097 ;HP:0003196 ;HP:0003417 ;HP:0003745 ;HP:0003811 ;HP:0003826 ;HP:0004592 ;HP:0005280 ;HP:0005792 ;HP:0006406 ;HP:0006408 ;HP:0006495 ;HP:0008905 ;HP:0010049 ;HP:0010743
chr3|57994127|58157982|ENSG00000136068.10|ENSG00000136068.10|FLNB|FLNB|Confirmed DD Gene|Monoallelic|Activating|atelosteogenesis type 3 (AO3)|10099|108721|14991055|HP:0000006 ;HP:0000175 ;HP:0000269 ;HP:0000272 ;HP:0000327 ;HP:0000347 ;HP:0000470 ;HP:0001234 ;HP:0001762 ;HP:0001852 ;HP:0002007 ;HP:0002650 ;HP:0002947 ;HP:0002982 ;HP:0002986 ;HP:0003042 ;HP:0003180 ;HP:0003440 ;HP:0004612 ;HP:0004976 ;HP:0005280 ;HP:0006060 ;HP:0006200 ;HP:0008905
chr3|57994127|58157982|ENSG00000136068.10|ENSG00000136068.10|FLNB|FLNB|Confirmed DD Gene|Monoallelic|Uncertain|boomerang dysplasia (BOOMD)|11375|112310||HP:0000006 ;HP:0000431 ;HP:0002990 ;HP:0003510 ;HP:0003811 ;HP:0003974 ;HP:0004497 ;HP:0005104 ;HP:0008824
chr3|57994127|58157982|ENSG00000136068.10|ENSG00000136068.10|FLNB|FLNB|Confirmed DD Gene|Monoallelic|Uncertain|autosomal dominant Larsen syndrome (LRS1)|11376|150250|16801345 ;14991055|HP:0000006 ;HP:0000028 ;HP:0000175 ;HP:0000204 ;HP:0000272 ;HP:0000316 ;HP:0000405 ;HP:0000586 ;HP:0000668 ;HP:0000767 ;HP:0000768 ;HP:0001222 ;HP:0001249 ;HP:0001388 ;HP:0001511 ;HP:0001629 ;HP:0001631 ;HP:0001724 ;HP:0001762 ;HP:0001772 ;HP:0001799 ;HP:0002007 ;HP:0002176 ;HP:0002650 ;HP:0002777 ;HP:0002779 ;HP:0002780 ;HP:0002827 ;HP:0002947 ;HP:0003042 ;HP:0003298 ;HP:0003304 ;HP:0004232 ;HP:0004322 ;HP:0004568 ;HP:0004976 ;HP:0004992 ;HP:0005280 ;HP:0006067 ;HP:0007957 ;HP:0008127 ;HP:0008434 ;HP:0010049 ;HP:0010743 ;HP:0011220
chr3|57994127|58157982|ENSG00000136068.10|ENSG00000136068.10|FLNB|FLNB|Confirmed DD Gene|Biallelic|Loss of function|SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (SCT; )|10942|272460|18386804 ;14991055 ;18257094|HP:0000007 ;HP:0000107 ;HP:0000175 ;HP:0000283 ;HP:0000316 ;HP:0000384 ;HP:0000410 ;HP:0000455 ;HP:0000470 ;HP:0000518 ;HP:0001763 ;HP:0002091 ;HP:0002644 ;HP:0002650 ;HP:0002656 ;HP:0002750 ;HP:0002948 ;HP:0003196 ;HP:0003305 ;HP:0003307 ;HP:0003311 ;HP:0003422 ;HP:0003521 ;HP:0004209 ;HP:0006297 ;HP:0007961 ;HP:0008368 ;HP:0008456 ;HP:0009702
chr3|69024365|69063112|ENSG00000163378.9|ENSG00000163378.9|EOGT|EOGT|Confirmed DD Gene|Biallelic|Loss of function|Adams Oliver syndrome|13525||23522784|
chr3|69788586|70017488|ENSG00000187098.10|ENSG00000187098.10|MITF|MITF|Confirmed DD Gene|Monoallelic|Loss of function|Waardenburg syndrome type 2A (WS2A)|10283|193510|9856573 ;8589691 ;7874167 ;8490648|HP:0000006 ;HP:0000430 ;HP:0000431 ;HP:0000664 ;HP:0001022 ;HP:0001100 ;HP:0001425 ;HP:0002211 ;HP:0002216 ;HP:0002226 ;HP:0002227 ;HP:0003828 ;HP:0007443 ;HP:0007990 ;HP:0008527
chr3|69788586|70017488|ENSG00000187098.10|ENSG00000187098.10|MITF|MITF|Confirmed DD Gene|Monoallelic|Loss of function|Waardenburg syndrome type 2 with ocular albinism (WS2-OA)|10313|103470|9158138|HP:0000006 ;HP:0000365 ;HP:0000486 ;HP:0000505 ;HP:0000540 ;HP:0000613 ;HP:0000639 ;HP:0001003 ;HP:0001010 ;HP:0001093 ;HP:0001417 ;HP:0001756 ;HP:0005592 ;HP:0007750
chr3|69788586|70017488|ENSG00000187098.10|ENSG00000187098.10|MITF|MITF|Confirmed DD Gene|Monoallelic|Uncertain|Tietz syndrome (TIETZS)|11232|103500|10851256 ;8589691|HP:0000006 ;HP:0000635 ;HP:0001487 ;HP:0002226 ;HP:0002227 ;HP:0007513 ;HP:0008527 ;HP:0008619
chr3|71003844|71633140|ENSG00000114861.14|ENSG00000114861.14|FOXP1|FOXP1|Confirmed DD Gene|Monoallelic|Loss of function|mental retardation with language impairment and autistic features (MRLIAF)|10392|613670|20950788|HP:0000006 ;HP:0000718 ;HP:0000733 ;HP:0000752
chr3|87308554|87325737|ENSG00000064835.6|ENSG00000064835.6|POU1F1|POU1F1|Confirmed DD Gene|Biallelic|Loss of function|POU1F1-Related Combined Pituitary Hormone Deficiency|12870|613038|12629113 ;11297581 ;7670563 ;16968807 ;1472057 ;8768831 ;9626142 ;1509262 ;1302000 ;15928241 ;2634610|HP:0000006 ;HP:0000007 ;HP:0000158 ;HP:0000270 ;HP:0000272 ;HP:0000463 ;HP:0000490 ;HP:0000821 ;HP:0001249 ;HP:0001252 ;HP:0002007 ;HP:0003196 ;HP:0004322 ;HP:0005280 ;HP:0006579 ;HP:0008850 ;HP:0011220
chr3|97483365|97519953|ENSG00000113966.5|ENSG00000113966.5|ARL6|ARL6|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 3 (BBS3)|10331|209900|15314642 ;7987310 ;9714014 ;12567324 ;12837689 ;12524598 ;12118255 ;20805367 ;16582908 ;17160889 ;20618352 ;11567139 ;8298649 ;16582908 ;7711739 ;12016587 ;11381270 ;18203199 ;15137946 ;12567324 ;21937992 ;22353939 ;16380913 ;18327255 ;12837689 ;10973251 ;10973238 ;18327255 ;18327255 ;16606853 ;14520415 ;16308660 ;20671153|HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr3|97483365|97519953|ENSG00000113966.5|ENSG00000113966.5|ARL6|ARL6|Confirmed DD Gene|Biallelic|Uncertain|retinitis pigmentosa type 55 (RP55)|11297|613575|19956407|HP:0000007 ;HP:0000510
chr3|111011566|111384597|ENSG00000153283.8|ENSG00000153283.8|CD96|CD96|Probable DD gene|Monoallelic|Loss of function|C syndrome|11156|211750|17847009|HP:0000007 ;HP:0000028 ;HP:0000057 ;HP:0000154 ;HP:0000156 ;HP:0000191 ;HP:0000243 ;HP:0000252 ;HP:0000286 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000486 ;HP:0000582 ;HP:0000803 ;HP:0000973 ;HP:0001162 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001508 ;HP:0001539 ;HP:0001629 ;HP:0001643 ;HP:0001770 ;HP:0001830 ;HP:0002240 ;HP:0002650 ;HP:0002750 ;HP:0002827 ;HP:0003083 ;HP:0003196 ;HP:0004322 ;HP:0005753 ;HP:0006643 ;HP:0009100 ;HP:0009465 ;HP:0009466 ;HP:0010049
chr3|119013220|119139561|ENSG00000031081.6|ENSG00000031081.6|ARHGAP31|ARHGAP31|Probable DD gene|Monoallelic|Loss of function|ADAMS-OLIVER SYNDROME 1; AOS1|10765|100300|474617 ;16451141|HP:0000006 ;HP:0000007 ;HP:0000119 ;HP:0000175 ;HP:0000204 ;HP:0000252 ;HP:0000565 ;HP:0000568 ;HP:0000965 ;HP:0001156 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001302 ;HP:0001362 ;HP:0001547 ;HP:0001596 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001642 ;HP:0001762 ;HP:0001770 ;HP:0001792 ;HP:0002079 ;HP:0002084 ;HP:0002092 ;HP:0002119 ;HP:0002126 ;HP:0002539 ;HP:0002558 ;HP:0003812 ;HP:0004415 ;HP:0006970 ;HP:0007589 ;HP:0007590
chr3|121706170|121741051|ENSG00000145103.8|ENSG00000145103.8|ILDR1|ILDR1|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 42|10769|609646|15641023 ;21255762|HP:0000007 ;HP:0000407 ;HP:0003593 ;HP:0003680
chr3|122044091|122060819|ENSG00000121552.3|ENSG00000121552.3|CSTA|CSTA|Probable DD gene|Biallelic|Loss of function|Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like|10753|607936|21944047|HP:0000007 ;HP:0000962 ;HP:0100725
chr3|124449213|124464040|ENSG00000114491.9|ENSG00000114491.9|UMPS|UMPS|Confirmed DD Gene|Biallelic|Loss of function|orotic aciduria type 1 (ORAC1)|10529|258900|9042911|HP:0000007 ;HP:0000790 ;HP:0001263 ;HP:0001508 ;HP:0001629 ;HP:0001631 ;HP:0003218 ;HP:0003267 ;HP:0003339 ;HP:0003526 ;HP:0004447 ;HP:0004826 ;HP:0005435 ;HP:0011273
chr3|126200124|126236616|ENSG00000159650.4|ENSG00000159650.4|UROC1|UROC1|Confirmed DD Gene|Biallelic|Uncertain|urocanase deficiency (UROD)|11255|276880|19304569|HP:0000007 ;HP:0000635 ;HP:0000639 ;HP:0000718 ;HP:0001251 ;HP:0001337 ;HP:0002286 ;HP:0004322 ;HP:0006887 ;HP:0010864 ;HP:0012237
chr3|128198270|128212028|ENSG00000179348.7|ENSG00000179348.7|GATA2|GATA2|Confirmed DD Gene|Monoallelic|Loss of function|Emberger syndrome|10676|614038|20803646 ;21892158|HP:0000006 ;HP:0000286 ;HP:0000465 ;HP:0000601 ;HP:0001004 ;HP:0001182 ;HP:0001876 ;HP:0002863
chr3|128598439|128634910|ENSG00000177646.13|ENSG00000177646.13|ACAD9|ACAD9|Confirmed DD Gene|Biallelic|Loss of function|acyl-CoA dehydrogenase family member type 9 deficiency|11171|611126|21057504 ;17564966|HP:0000007 ;HP:0001297 ;HP:0001298 ;HP:0001324 ;HP:0001399 ;HP:0001414 ;HP:0001635 ;HP:0001639 ;HP:0001644 ;HP:0001873 ;HP:0001943 ;HP:0002181 ;HP:0002910 ;HP:0003128 ;HP:0003215 ;HP:0003546
chr3|129158968|129239198|ENSG00000163913.7|ENSG00000163913.7|IFT122|IFT122|Confirmed DD Gene|Biallelic|All missense/in frame|Cranioectodermal dysplasia|10129|218330|19760620 ;20493458 ;17022080|HP:0000007 ;HP:0000106 ;HP:0000156 ;HP:0000232 ;HP:0000268 ;HP:0000286 ;HP:0000293 ;HP:0000431 ;HP:0000463 ;HP:0000506 ;HP:0000545 ;HP:0000556 ;HP:0000601 ;HP:0000639 ;HP:0000668 ;HP:0000674 ;HP:0000687 ;HP:0000691 ;HP:0000767 ;HP:0000773 ;HP:0000774 ;HP:0000939 ;HP:0000954 ;HP:0001388 ;HP:0001395 ;HP:0001399 ;HP:0001407 ;HP:0001538 ;HP:0001647 ;HP:0001799 ;HP:0001816 ;HP:0001831 ;HP:0001837 ;HP:0001970 ;HP:0002007 ;HP:0002213 ;HP:0002217 ;HP:0002240 ;HP:0002901 ;HP:0003038 ;HP:0003071 ;HP:0004298 ;HP:0004442 ;HP:0005792 ;HP:0006297 ;HP:0006563 ;HP:0008070 ;HP:0008905 ;HP:0009466 ;HP:0009880 ;HP:0009882
chr3|132276986|132441303|ENSG00000113971.14|ENSG00000113971.14|NPHP3|NPHP3|Confirmed DD Gene|Biallelic|Loss of function|nephronophthisis type 3 (NPHP3)|10916|604387|12872122 ;19303681|HP:0000007 ;HP:0000083 ;HP:0000092 ;HP:0000103 ;HP:0000108 ;HP:0000805 ;HP:0001395 ;HP:0001959 ;HP:0005576
chr3|132276986|132441303|ENSG00000113971.14|ENSG00000113971.14|NPHP3|NPHP3|Confirmed DD Gene|Biallelic|Loss of function|renal-hepatic-pancreatic dysplasia (RHPD)|10917|208540]||
chr3|132276986|132441303|ENSG00000113971.14|ENSG00000113971.14|NPHP3|NPHP3|Confirmed DD Gene|Biallelic|Loss of function|Meckel syndrome type 7 (MKS7)|10918|267010]||
chr3|133118839|133194066|ENSG00000170819.4|ENSG00000170819.4|BFSP2|BFSP2|Confirmed DD Gene|Monoallelic|Uncertain|cataract autosomal dominant BFSP2-related (ADC-BFSP2)|11209|611597|10729115 ;10634598|HP:0000006 ;HP:0000519 ;HP:0000545 ;HP:0007834
chr3|134204585|134293859|ENSG00000182923.12|ENSG00000182923.12|CEP63|CEP63|Probable DD gene|Biallelic|Loss of function|Seckel syndrome 6	|13532|614728|21983783; 21983783|
chr3|135969148|136056738|ENSG00000114054.9|ENSG00000114054.9|PCCB|PCCB|Confirmed DD Gene|Biallelic|Loss of function|Propionic acidemia	|13575|606054||HP:0000007 ;HP:0000939 ;HP:0000964 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001332 ;HP:0001508 ;HP:0001638 ;HP:0001733 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001903 ;HP:0001942 ;HP:0001943 ;HP:0001944 ;HP:0001987 ;HP:0002013 ;HP:0002019 ;HP:0002059 ;HP:0002104 ;HP:0002154 ;HP:0002240 ;HP:0002509 ;HP:0002789 ;HP:0003108 ;HP:0003128 ;HP:0003353 ;HP:0004322 ;HP:0004396 ;HP:0006846 ;HP:0008872 ;HP:0008936 ;HP:0011695
chr3|138663066|138665982|ENSG00000183770.5|ENSG00000183770.5|FOXL2|FOXL2|Probable DD gene|Monoallelic|Loss of function|blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)|10896|110100|11175783 ;12529855 ;11468277 ;12630957 ;12567411 ;21325395 ;17089161 ;12400065 ;12938087 ;11776388|HP:0000006 ;HP:0000141 ;HP:0000156 ;HP:0000378 ;HP:0000431 ;HP:0000482 ;HP:0000486 ;HP:0000506 ;HP:0000508 ;HP:0000537 ;HP:0000540 ;HP:0000568 ;HP:0000581 ;HP:0000639 ;HP:0000769 ;HP:0000837 ;HP:0000858 ;HP:0001595 ;HP:0005280 ;HP:0005280 ;HP:0008209 ;HP:0008222
chr3|142168077|142297668|ENSG00000175054.10|ENSG00000175054.10|ATR|ATR|Possible DD Gene|Biallelic|Loss of function|Seckel syndrome type 1 (SCKL1) |10336|210600||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000156 ;HP:0000175 ;HP:0000237 ;HP:0000252 ;HP:0000324 ;HP:0000340 ;HP:0000347 ;HP:0000369 ;HP:0000377 ;HP:0000444 ;HP:0000448 ;HP:0000486 ;HP:0000494 ;HP:0000581 ;HP:0000678 ;HP:0000689 ;HP:0000752 ;HP:0000878 ;HP:0000954 ;HP:0001090 ;HP:0001249 ;HP:0001250 ;HP:0001302 ;HP:0001320 ;HP:0001511 ;HP:0001592 ;HP:0001763 ;HP:0001852 ;HP:0001876 ;HP:0001883 ;HP:0002650 ;HP:0002750 ;HP:0002827 ;HP:0002987 ;HP:0003083 ;HP:0003508 ;HP:0004209 ;HP:0006143 ;HP:0006297 ;HP:0006434 ;HP:0006442 ;HP:0007048 ;HP:0010230 ;HP:0010583
chr3|142984064|143567373|ENSG00000181804.10|ENSG00000181804.10|SLC9A9|SLC9A9|Possible DD Gene|Monoallelic|Loss of function|susceptibility to autism type 16 (AUTS16)|10509|613410||
chr3|145787227|145881440|ENSG00000152952.7|ENSG00000152952.7|PLOD2|PLOD2|Confirmed DD Gene|Biallelic|Loss of function|Bruck syndrome type 2|11515|609220|15523624|HP:0000007 ;HP:0000023 ;HP:0000768 ;HP:0000926 ;HP:0000938 ;HP:0001059 ;HP:0001371 ;HP:0001762 ;HP:0002645 ;HP:0002659 ;HP:0002980 ;HP:0002987 ;HP:0003080 ;HP:0004322 ;HP:0006380
chr3|155538813|155572218|ENSG00000169359.9|ENSG00000169359.9|SLC33A1|SLC33A1|Confirmed DD Gene|Biallelic|Loss of function|Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin|10708|||
chr3|158362067|158410364|ENSG00000168827.10|ENSG00000168827.10|GFM1|GFM1|Confirmed DD Gene|Biallelic|Loss of function|Combined Oxidative Phosphorylation Deficiency 1|12322|609060|17160893|HP:0000007 ;HP:0000252 ;HP:0000639 ;HP:0000817 ;HP:0001257 ;HP:0001270 ;HP:0001347 ;HP:0001396 ;HP:0001511 ;HP:0001942 ;HP:0002079 ;HP:0002151 ;HP:0002240 ;HP:0002283 ;HP:0002375 ;HP:0002490 ;HP:0003577 ;HP:0004448 ;HP:0006799 ;HP:0008936 ;HP:0011968
chr3|159974774|160117668|ENSG00000068885.10|ENSG00000068885.10|IFT80|IFT80|Confirmed DD Gene|Biallelic|All missense/in frame|Asphyxiating thoracic dystrophy 2|10155|611263|17468754|HP:0000007 ;HP:0000774 ;HP:0001156 ;HP:0001162 ;HP:0001169 ;HP:0001773 ;HP:0003027 ;HP:0008905 ;HP:0010049
chr3|167401086|167452727|ENSG00000114209.10|ENSG00000114209.10|PDCD10|PDCD10|Both DD and IF|Monoallelic|Loss of function|cerebral cavernous malformations type 3 (CCM3)|10474|603285||HP:0001250 ;HP:0001342 ;HP:0002060 ;HP:0002315 ;HP:0003470
chr3|170714137|170744539|ENSG00000163581.9|ENSG00000163581.9|SLC2A2|SLC2A2|Confirmed DD Gene|Biallelic|Loss of function|Fanconi-Bickel Syndrome|13132|269871|9354798|
chr3|176737143|176915261|ENSG00000177565.11|ENSG00000177565.11|TBL1XR1|TBL1XR1|Probable DD gene|Monoallelic|Loss of function|Autism|13496|209850|23160955|HP:0000717 ;HP:0000721 ;HP:0000723 ;HP:0000728 ;HP:0000732 ;HP:0000733 ;HP:0000750 ;HP:0000758 ;HP:0001249 ;HP:0001250 ;HP:0001426 ;HP:0002353 ;HP:0003144 ;HP:0003745 ;HP:0011463
chr3|178865902|178957881|ENSG00000121879.3|ENSG00000121879.3|PIK3CA|PIK3CA|Confirmed DD Gene|Mosaic|Activating|CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI|13378|612918|22658544|HP:0000324 ;HP:0001528 ;HP:0001548 ;HP:0001744 ;HP:0001852 ;HP:0002144 ;HP:0002564 ;HP:0002650 ;HP:0004099 ;HP:0004437 ;HP:0008678 ;HP:0010301 ;HP:0012032
chr3|178865902|178957881|ENSG00000121879.3|ENSG00000121879.3|PIK3CA|PIK3CA|Confirmed DD Gene|Mosaic|Activating|Hemimegalencephaly PIK3CA|13380|||
chr3|180320646|180588793|ENSG00000145075.7|ENSG00000145075.7|CCDC39|CCDC39|Confirmed DD Gene|Biallelic|Loss of function|Ciliary dyskinesia, primary, 14|10688|613807|21131972|
chr3|181429714|181432221|ENSG00000181449.2|ENSG00000181449.2|SOX2|SOX2|Confirmed DD Gene|Monoallelic|Loss of function|microphthalmia syndromic type 3 (MCOPS3)|10295|206900|21919124 ;16470798 ;12612584 ;16145681 ;16932809 ;12002146 ;15389708 ;19254784 ;15346919 ;15812812 ;18831064 ;21326281 ;16543359 ;16283891|HP:0000006 ;HP:0000028 ;HP:0000044 ;HP:0000047 ;HP:0000054 ;HP:0000252 ;HP:0000407 ;HP:0000528 ;HP:0000568 ;HP:0000589 ;HP:0000609 ;HP:0000902 ;HP:0000921 ;HP:0001252 ;HP:0001263 ;HP:0001264 ;HP:0001274 ;HP:0001328 ;HP:0001629 ;HP:0001643 ;HP:0002007 ;HP:0002032 ;HP:0002079 ;HP:0002444 ;HP:0002510 ;HP:0002937 ;HP:0002948 ;HP:0003316 ;HP:0004322 ;HP:0005815 ;HP:0008417 ;HP:0008897 ;HP:0010627
chr3|181429714|181432221|ENSG00000181449.2|ENSG00000181449.2|SOX2|SOX2|Confirmed DD Gene|Monoallelic|Loss of function|AEG syndrome|11183|||
chr3|182733006|182833863|ENSG00000078070.7|ENSG00000078070.7|MCCC1|MCCC1|Confirmed DD Gene|Biallelic|Loss of function|3-Methylcrotonyl-CoA Carboxylase Deficiency|12654|210200||HP:0000007 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001347 ;HP:0001508 ;HP:0001943 ;HP:0002013 ;HP:0002179 ;HP:0002919 ;HP:0003812 ;HP:0004911 ;HP:0006573 ;HP:0008281 ;HP:0008872
chr3|183960089|183967336|ENSG00000214160.5|ENSG00000214160.5|ALG3|ALG3|Confirmed DD Gene|Biallelic|Loss of function|ALG3-CDG (CDG-Id)|11006|237128||
chr3|186935942|187009810|ENSG00000127241.12|ENSG00000127241.12|MASP1|MASP1|Confirmed DD Gene|Biallelic|Loss of function|3MC SYNDROME 1; 3MC1|10686|257920|17937425 ;21258343 ;21035106|HP:0000007 ;HP:0000126 ;HP:0000175 ;HP:0000204 ;HP:0000252 ;HP:0000260 ;HP:0000316 ;HP:0000405 ;HP:0000496 ;HP:0000501 ;HP:0000508 ;HP:0000524 ;HP:0000537 ;HP:0000581 ;HP:0000593 ;HP:0000678 ;HP:0000960 ;HP:0001256 ;HP:0001510 ;HP:0001539 ;HP:0001773 ;HP:0002553 ;HP:0002558 ;HP:0002678 ;HP:0002974 ;HP:0003298 ;HP:0004209 ;HP:0004440 ;HP:0004443 ;HP:0006216 ;HP:0008897 ;HP:0009237 ;HP:0009891
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Uncertain|acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)|11271|103285|11528512 ;11929852 ;16724007 ;16114047 ;19530185|HP:0000006 ;HP:0000202 ;HP:0000509 ;HP:0000579 ;HP:0000668 ;HP:0000677 ;HP:0000691 ;HP:0000958 ;HP:0000963 ;HP:0000964 ;HP:0000968 ;HP:0000992 ;HP:0001171 ;HP:0001480 ;HP:0001770 ;HP:0001803 ;HP:0001839 ;HP:0002209 ;HP:0002215 ;HP:0002286 ;HP:0002293 ;HP:0002557 ;HP:0002561 ;HP:0003187 ;HP:0004334 ;HP:0006357 ;HP:0006610 ;HP:0007455
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Uncertain|ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)|11349|106260|10886756 ;11159940 ;19239083|HP:0000006 ;HP:0000047 ;HP:0000054 ;HP:0000175 ;HP:0000204 ;HP:0000300 ;HP:0000327 ;HP:0000405 ;HP:0000413 ;HP:0000431 ;HP:0000498 ;HP:0000509 ;HP:0000561 ;HP:0000564 ;HP:0000653 ;HP:0000668 ;HP:0000687 ;HP:0000698 ;HP:0000707 ;HP:0000953 ;HP:0000970 ;HP:0000982 ;HP:0001592 ;HP:0001629 ;HP:0001643 ;HP:0001795 ;HP:0001798 ;HP:0002231 ;HP:0002232 ;HP:0002558 ;HP:0004691 ;HP:0008404 ;HP:0009755
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Loss of function|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3)|10605|604292|12838557 ;10535733 ;10839977 ;9443880 ;21204238|HP:0000006 ;HP:0000015 ;HP:0000028 ;HP:0000044 ;HP:0000054 ;HP:0000070 ;HP:0000072 ;HP:0000076 ;HP:0000081 ;HP:0000104 ;HP:0000110 ;HP:0000126 ;HP:0000145 ;HP:0000175 ;HP:0000198 ;HP:0000204 ;HP:0000217 ;HP:0000272 ;HP:0000327 ;HP:0000365 ;HP:0000437 ;HP:0000453 ;HP:0000498 ;HP:0000535 ;HP:0000581 ;HP:0000613 ;HP:0000620 ;HP:0000635 ;HP:0000653 ;HP:0000670 ;HP:0000691 ;HP:0000824 ;HP:0000863 ;HP:0000962 ;HP:0000968 ;HP:0001171 ;HP:0001249 ;HP:0001592 ;HP:0001739 ;HP:0001770 ;HP:0001803 ;HP:0001839 ;HP:0002209 ;HP:0002215 ;HP:0002225 ;HP:0002286 ;HP:0002557 ;HP:0007513 ;HP:0008404 ;HP:0008551
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Uncertain|split-hand/foot malformation type 4 (SHFM4)|11350|605289|10839977 ;3366140 ;15736220|HP:0000006 ;HP:0001159 ;HP:0001964 ;HP:0005914 ;HP:0009767 ;HP:0010173 ;HP:0100257
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Uncertain|limb-mammary syndrome (LMS)|11351|603543|11462173|HP:0000006 ;HP:0000175 ;HP:0000193 ;HP:0000564 ;HP:0000668 ;HP:0000966 ;HP:0001159 ;HP:0001171 ;HP:0001822 ;HP:0001839 ;HP:0002164 ;HP:0002557 ;HP:0009473
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Uncertain|ectodermal dysplasia Rapp-Hodgkin type (EDRH)|11352|129400|12939657 ;14684701 ;17609671 ;12766194 ;16740912|HP:0000006 ;HP:0000047 ;HP:0000059 ;HP:0000160 ;HP:0000175 ;HP:0000193 ;HP:0000204 ;HP:0000220 ;HP:0000327 ;HP:0000348 ;HP:0000365 ;HP:0000403 ;HP:0000430 ;HP:0000460 ;HP:0000508 ;HP:0000668 ;HP:0000963 ;HP:0000966 ;HP:0001092 ;HP:0001159 ;HP:0001792 ;HP:0001805 ;HP:0002213 ;HP:0002235 ;HP:0002287 ;HP:0004322 ;HP:0005280 ;HP:0007500 ;HP:0008070
chr3|189349205|189615068|ENSG00000073282.8|ENSG00000073282.8|TP63|TP63|Confirmed DD Gene|Monoallelic|Uncertain|non-syndromic orofacial cleft type 8 (OFC8)|11353|129400|12939657 ;14684701 ;17609671 ;12766194 ;16740912|HP:0000006 ;HP:0000047 ;HP:0000059 ;HP:0000160 ;HP:0000175 ;HP:0000193 ;HP:0000204 ;HP:0000220 ;HP:0000327 ;HP:0000348 ;HP:0000365 ;HP:0000403 ;HP:0000430 ;HP:0000460 ;HP:0000508 ;HP:0000668 ;HP:0000963 ;HP:0000966 ;HP:0001092 ;HP:0001159 ;HP:0001792 ;HP:0001805 ;HP:0002213 ;HP:0002235 ;HP:0002287 ;HP:0004322 ;HP:0005280 ;HP:0007500 ;HP:0008070
chr3|195941093|196014828|ENSG00000161217.7|ENSG00000161217.7|PCYT1A|PCYT1A|Confirmed DD Gene|Biallelic|Loss of function|Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy|13690|||
chr3|196195654|196230639|ENSG00000163961.4|ENSG00000163961.4|RNF168|RNF168|Possible DD Gene|Biallelic|Loss of function|RIDDLE syndrome	|11182|611943||HP:0000007 ;HP:0001999 ;HP:0002721 ;HP:0004315 ;HP:0004322 ;HP:0011133 ;HP:0011342
chr3|197398264|197476598|ENSG00000145016.9|ENSG00000145016.9|KIAA0226|KIAA0226|Possible DD Gene|Biallelic|Uncertain|syndromic MR with ataxia, dysarthria and epilepsy|13426|||
chr4|980785|998316|ENSG00000127415.8|ENSG00000127415.8|IDUA|IDUA|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 1H (MPS1H)|10416|607014|8328452 ;7951228 ;6821579 ;10735634 ;8664897|HP:0000007 ;HP:0000280 ;HP:0000470 ;HP:0000894 ;HP:0000943 ;HP:0001249 ;HP:0001263 ;HP:0001387 ;HP:0001433 ;HP:0001653 ;HP:0001659 ;HP:0001706 ;HP:0002205 ;HP:0002680 ;HP:0002808 ;HP:0002869 ;HP:0003311 ;HP:0003320 ;HP:0003541 ;HP:0004322 ;HP:0004490 ;HP:0004586 ;HP:0005019 ;HP:0005280 ;HP:0007957 ;HP:0011400 ;HP:0100790
chr4|980785|998316|ENSG00000127415.8|ENSG00000127415.8|IDUA|IDUA|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 1H/S (MPS1H/S)|10581|607015|10466419 ;9391892 ;10735634 ;7550232 ;8664897|
chr4|980785|998316|ENSG00000127415.8|ENSG00000127415.8|IDUA|IDUA|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 1S (MPS1S)|10582|607016|4221470 ;7550232|
chr4|1341054|1381837|ENSG00000163945.11|ENSG00000163945.11|UVSSA|UVSSA|Confirmed DD Gene|Biallelic|Loss of function|UV-sensitive syndrome (UVSS)|11196|609413||
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Activating|achondroplasia (ACH)|10061|100800|16912704 ;8078586 ;16411219 ;7913883 ;7758520|HP:0000006 ;HP:0000238 ;HP:0000272 ;HP:0000403 ;HP:0000405 ;HP:0001156 ;HP:0001270 ;HP:0001355 ;HP:0001377 ;HP:0002007 ;HP:0002512 ;HP:0002761 ;HP:0002781 ;HP:0002938 ;HP:0002970 ;HP:0003015 ;HP:0003093 ;HP:0004060 ;HP:0005280 ;HP:0005468 ;HP:0005733 ;HP:0008414 ;HP:0008905 ;HP:0008921 ;HP:0008947 ;HP:0100864
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Activating|Crouzon syndrome with acanthosis nigricans (CAN)|10073|612247|7493034|
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Activating|thanatophoric dysplasia type 1 (TD1)|10074|187600|19449430 ;8845844 ;7647778 ;7773297|HP:0000006 ;HP:0000238 ;HP:0000256 ;HP:0000274 ;HP:0000773 ;HP:0000774 ;HP:0000910 ;HP:0000945 ;HP:0000946 ;HP:0001252 ;HP:0001558 ;HP:0001561 ;HP:0002007 ;HP:0002093 ;HP:0002187 ;HP:0002282 ;HP:0002676 ;HP:0002677 ;HP:0003026 ;HP:0003185 ;HP:0003811 ;HP:0004565 ;HP:0006487 ;HP:0006584 ;HP:0008909
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Activating|thanatophoric dysplasia type 2 (TD2)|10075|187601|7773297|HP:0000006 ;HP:0000274 ;HP:0000773 ;HP:0000774 ;HP:0000910 ;HP:0000926 ;HP:0000945 ;HP:0000946 ;HP:0001156 ;HP:0001558 ;HP:0001561 ;HP:0002093 ;HP:0002676 ;HP:0002677 ;HP:0003185 ;HP:0003811 ;HP:0006584 ;HP:0008909
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Activating|hypochondroplasia (HCH)|10076|146000|7670477 ;11055896 ;9452043 ;10215410 ;16912704 ;8589686|HP:0000006 ;HP:0000256 ;HP:0000272 ;HP:0001156 ;HP:0001249 ;HP:0001377 ;HP:0002007 ;HP:0002644 ;HP:0002938 ;HP:0002970 ;HP:0003015 ;HP:0003026 ;HP:0009815 ;HP:0011405
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Uncertain|camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome)|11305|610474|17033969|HP:0000006 ;HP:0000098 ;HP:0000252 ;HP:0000407 ;HP:0000767 ;HP:0001249 ;HP:0001263 ;HP:0001836 ;HP:0002650 ;HP:0004570 ;HP:0006417 ;HP:0009473
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Uncertain|lacrimo-auriculo-dento-digital syndrome (LADDS)|11306|149730||HP:0000006 ;HP:0000104 ;HP:0000198 ;HP:0000217 ;HP:0000316 ;HP:0000337 ;HP:0000378 ;HP:0000410 ;HP:0000494 ;HP:0000495 ;HP:0000506 ;HP:0000522 ;HP:0000579 ;HP:0000620 ;HP:0000629 ;HP:0000668 ;HP:0000670 ;HP:0000680 ;HP:0000974 ;HP:0001092 ;HP:0001233 ;HP:0001245 ;HP:0002984 ;HP:0003022 ;HP:0003974 ;HP:0004209 ;HP:0005707 ;HP:0006297 ;HP:0007656 ;HP:0007732 ;HP:0007892 ;HP:0007900 ;HP:0008743 ;HP:0009462 ;HP:0009637 ;HP:0009740 ;HP:0009741 ;HP:0009944 ;HP:0010055 ;HP:0011065 ;HP:0100258 ;HP:0100583
chr4|1795034|1810599|ENSG00000068078.13|ENSG00000068078.13|FGFR3|FGFR3|Confirmed DD Gene|Monoallelic|Activating|Muenke syndrome (MNKS)|10077|602849||HP:0000006 ;HP:0000156 ;HP:0000248 ;HP:0000256 ;HP:0000272 ;HP:0000294 ;HP:0000316 ;HP:0000407 ;HP:0000494 ;HP:0000508 ;HP:0001241 ;HP:0001249 ;HP:0001263 ;HP:0001357 ;HP:0003795 ;HP:0004440 ;HP:0005819 ;HP:0006193 ;HP:0009466 ;HP:0010055 ;HP:0010230
chr4|3508103|3534286|ENSG00000163956.6|ENSG00000163956.6|LRPAP1|LRPAP1|Possible DD Gene|Biallelic|Loss of function|Extreme myopia;Myopia 23, autosomal recessive|13654|615431|23830514|
chr4|4861393|4865663|ENSG00000163132.6|ENSG00000163132.6|MSX1|MSX1|Confirmed DD Gene|Monoallelic|Loss of function|Cleft Lip +/- Cleft Palate|11057|608874|12807959 ;15354328|HP:0000006 ;HP:0000175 ;HP:0000204
chr4|5544499|5711275|ENSG00000173040.8|ENSG00000173040.8|EVC2|EVC2|Confirmed DD Gene|Biallelic|Loss of function|Ellis-van Creveld syndrome (EVC)|10899|225500||HP:0000007 ;HP:0000028 ;HP:0000039 ;HP:0000047 ;HP:0000204 ;HP:0000668 ;HP:0000684 ;HP:0000695 ;HP:0000768 ;HP:0000773 ;HP:0000774 ;HP:0001162 ;HP:0001241 ;HP:0001249 ;HP:0001305 ;HP:0001631 ;HP:0001762 ;HP:0001830 ;HP:0002164 ;HP:0002644 ;HP:0002857 ;HP:0003026 ;HP:0006035 ;HP:0006477 ;HP:0008873 ;HP:0008921
chr4|5544499|5711275|ENSG00000173040.8|ENSG00000173040.8|EVC2|EVC2|Confirmed DD Gene|Biallelic|Loss of function|acrofacial dysostosis Weyers type (WAD)|10900|193530|16404586|HP:0000006 ;HP:0000395 ;HP:0000601 ;HP:0000698 ;HP:0001156 ;HP:0001162 ;HP:0001792 ;HP:0001830 ;HP:0002164 ;HP:0003502 ;HP:0004209 ;HP:0004279 ;HP:0006315
chr4|5712924|5830772|ENSG00000072840.8|ENSG00000072840.8|EVC|EVC|Confirmed DD Gene|Biallelic|Loss of function|Ellis-van Creveld syndrome (EVC)|10894|225500|14217223 ;10700184 ;7628126 ;7218275 ;12468274 ;12571802 ;21815252|HP:0000007 ;HP:0000028 ;HP:0000039 ;HP:0000047 ;HP:0000204 ;HP:0000668 ;HP:0000684 ;HP:0000695 ;HP:0000768 ;HP:0000773 ;HP:0000774 ;HP:0001162 ;HP:0001241 ;HP:0001249 ;HP:0001305 ;HP:0001631 ;HP:0001762 ;HP:0001830 ;HP:0002164 ;HP:0002644 ;HP:0002857 ;HP:0003026 ;HP:0006035 ;HP:0006477 ;HP:0008873 ;HP:0008921
chr4|5712924|5830772|ENSG00000072840.8|ENSG00000072840.8|EVC|EVC|Confirmed DD Gene|Biallelic|Loss of function|acrofacial dysostosis Weyers type (WAD)|10895|193530||HP:0000006 ;HP:0000395 ;HP:0000601 ;HP:0000698 ;HP:0001156 ;HP:0001162 ;HP:0001792 ;HP:0001830 ;HP:0002164 ;HP:0003502 ;HP:0004209 ;HP:0004279 ;HP:0006315
chr4|8847802|8873543|ENSG00000215612.5|ENSG00000215612.5|HMX1|HMX1|Probable DD gene|Biallelic|Loss of function|oculoauricular syndrome (OCLAUS)|11114|612109|18423520|HP:0000007 ;HP:0000482 ;HP:0000518 ;HP:0000568 ;HP:0000589 ;HP:0000639 ;HP:0000647 ;HP:0001104 ;HP:0007906
chr4|13542454|13546674|ENSG00000109705.7|ENSG00000109705.7|NKX3-2|NKX3-2|Confirmed DD Gene|Biallelic|Loss of function|spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD)|10912|613330||HP:0000007 ;HP:0000773 ;HP:0002970 ;HP:0003521 ;HP:0004288 ;HP:0100569
chr4|15471489|15603180|ENSG00000048342.11|ENSG00000048342.11|CC2D2A|CC2D2A|Confirmed DD Gene|Biallelic|Loss of function|MECKEL SYNDROME, TYPE 6; MKS6|11109|612284|18513680 ;20671153|HP:0000107 ;HP:0000175 ;HP:0000204 ;HP:0000812 ;HP:0001161 ;HP:0001762 ;HP:0002085 ;HP:0002323 ;HP:0006706
chr4|15471489|15603180|ENSG00000048342.11|ENSG00000048342.11|CC2D2A|CC2D2A|Confirmed DD Gene|Biallelic|Loss of function|JOUBERT SYNDROME 9|11129|612285|18950740 ;22246503 ;18387594|HP:0000007 ;HP:0000483 ;HP:0000510 ;HP:0000518 ;HP:0000639 ;HP:0001249
chr4|15471489|15603180|ENSG00000048342.11|ENSG00000048342.11|CC2D2A|CC2D2A|Confirmed DD Gene|Biallelic|Loss of function|COACH syndrome|11130|216360|19574260 ;19574260 ;8862632 ;2929661|HP:0000007 ;HP:0000083 ;HP:0000090 ;HP:0000154 ;HP:0000272 ;HP:0000311 ;HP:0000316 ;HP:0000463 ;HP:0000508 ;HP:0000589 ;HP:0000639 ;HP:0000657 ;HP:0001162 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001320 ;HP:0001347 ;HP:0001394 ;HP:0001409 ;HP:0001425 ;HP:0001510 ;HP:0001744 ;HP:0002085 ;HP:0002240 ;HP:0002342 ;HP:0002910 ;HP:0003593 ;HP:0008659
chr4|17461884|17513857|ENSG00000151552.7|ENSG00000151552.7|QDPR|QDPR|Confirmed DD Gene|Biallelic|Loss of function|BH4-Deficient Hyperphenylalaninemia C|12932|261630|9744478 ;8326489 ;2116088 ;9341885 ;11153907|HP:0000007 ;HP:0000252 ;HP:0000737 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001266 ;HP:0001276 ;HP:0001332 ;HP:0001336 ;HP:0001337 ;HP:0001954 ;HP:0002015 ;HP:0002344 ;HP:0002514 ;HP:0003593 ;HP:0003828 ;HP:0004923
chr4|26165077|26436541|ENSG00000168214.16|ENSG00000168214.16|RBPJ|RBPJ|Probable DD gene|Monoallelic|All missense/in frame|Adams Oliver syndrome|13403|614814|22883147|HP:0000006 ;HP:0000252 ;HP:0000581 ;HP:0001263 ;HP:0004691 ;HP:0009882 ;HP:0010743 ;HP:0010760
chr4|39184024|39287430|ENSG00000157796.13|ENSG00000157796.13|WDR19|WDR19|Confirmed DD Gene|Biallelic|Uncertain|Asphyxiating thoracic dystrophy 5|11369|614376|19430947|HP:0000007 ;HP:0000023 ;HP:0000089 ;HP:0000093 ;HP:0000219 ;HP:0000293 ;HP:0000518 ;HP:0000545 ;HP:0000774 ;HP:0001773 ;HP:0003016 ;HP:0003259 ;HP:0003774 ;HP:0004322 ;HP:0004743 ;HP:0100866 ;HP:0200086
chr4|39184024|39287430|ENSG00000157796.13|ENSG00000157796.13|WDR19|WDR19|Confirmed DD Gene|Biallelic|Loss of function|Cranioectodermal dysplasia 4|10828|614378|22019273|HP:0000007 ;HP:0000112 ;HP:0000213 ;HP:0000293 ;HP:0000319 ;HP:0000411 ;HP:0000510 ;HP:0000540 ;HP:0000767 ;HP:0000774 ;HP:0000973 ;HP:0001382 ;HP:0001385 ;HP:0002007 ;HP:0003774 ;HP:0004322 ;HP:0004442 ;HP:0005528 ;HP:0006532 ;HP:0009836 ;HP:0009882 ;HP:0010174 ;HP:0010554
chr4|41746099|41750987|ENSG00000109132.5|ENSG00000109132.5|PHOX2B|PHOX2B|Confirmed DD Gene|Monoallelic|Uncertain|Central hypoventilation syndrome, congenital, with or without Hirschsprung disease|11395|209880|12640453|HP:0000006 ;HP:0000153 ;HP:0000358 ;HP:0000369 ;HP:0000494 ;HP:0001064 ;HP:0001626 ;HP:0002019 ;HP:0002251 ;HP:0002791 ;HP:0003005 ;HP:0004370 ;HP:0006747 ;HP:0011968
chr4|41746099|41750987|ENSG00000109132.5|ENSG00000109132.5|PHOX2B|PHOX2B|Confirmed DD Gene|Monoallelic|Uncertain|Neuroblastoma with Hirschsprung disease|11396|613013|12438263 ;16691592 ;15024693|HP:0000006 ;HP:0002251 ;HP:0003005 ;HP:0006747
chr4|42895284|43032675|ENSG00000215203.2|ENSG00000215203.2|GRXCR1|GRXCR1|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 25|10727|613285|20137778|HP:0000007 ;HP:0000364
chr4|55524085|55606881|ENSG00000157404.11|ENSG00000157404.11|KIT|KIT|Both DD and IF|Monoallelic|All missense/in frame|multiple gastrointestinal stromal tumors|10114|606764||HP:0000006 ;HP:0000953 ;HP:0001025 ;HP:0001067 ;HP:0001176 ;HP:0002015 ;HP:0002019 ;HP:0003745 ;HP:0005214 ;HP:0100723
chr4|55524085|55606881|ENSG00000157404.11|ENSG00000157404.11|KIT|KIT|Both DD and IF|Monoallelic|Loss of function|human piebaldism|10671|172800||HP:0000006 ;HP:0000598 ;HP:0001100 ;HP:0002211 ;HP:0002251 ;HP:0002664 ;HP:0007443 ;HP:0007443 ;HP:0007542 ;HP:0007544
chr4|56212276|56239263|ENSG00000128039.6|ENSG00000128039.6|SRD5A3|SRD5A3|Confirmed DD Gene|Biallelic|Loss of function|Congenital Disorders of Glycosylation|11079|612379|18271001 ;20637498|HP:0000007 ;HP:0000248 ;HP:0000316 ;HP:0000369 ;HP:0000572 ;HP:0000589 ;HP:0000639 ;HP:0000962 ;HP:0000964 ;HP:0000973 ;HP:0000998 ;HP:0001000 ;HP:0001249 ;HP:0001270 ;HP:0001320 ;HP:0001935 ;HP:0001976 ;HP:0002126 ;HP:0002910 ;HP:0003593 ;HP:0003642 ;HP:0005280
chr4|56262124|56319564|ENSG00000134851.8|ENSG00000134851.8|TMEM165|TMEM165|Confirmed DD Gene|Biallelic|Loss of function|Congenital disorder of glycosylation, type IIk	|13388|614727|22683087|HP:0000007 ;HP:0000272 ;HP:0000705 ;HP:0000939 ;HP:0001250 ;HP:0001263 ;HP:0001324 ;HP:0001388 ;HP:0001508 ;HP:0001873 ;HP:0001955 ;HP:0002240 ;HP:0002500 ;HP:0002656 ;HP:0002751 ;HP:0002910 ;HP:0003236 ;HP:0003812 ;HP:0004322 ;HP:0005484 ;HP:0100252 ;HP:0100255
chr4|56815037|56899529|ENSG00000174799.6|ENSG00000174799.6|CEP135|CEP135|Probable DD gene|Biallelic|Loss of function|Primary Microcephaly and Disturbed Centrosomal Function|11192|614673|22521416|HP:0000007 ;HP:0000278 ;HP:0000340 ;HP:0003577 ;HP:0010864
chr4|57896939|57976551|ENSG00000163453.7|ENSG00000163453.7|IGFBP7|IGFBP7|Probable DD gene|Biallelic|Loss of function|Retinal arterial macroaneurysm with supravalvular pulmonic stenosis|10757|614224|12441727|HP:0000007 ;HP:0001642 ;HP:0012231
chr4|72053003|72437804|ENSG00000080493.9|ENSG00000080493.9|SLC4A4|SLC4A4|Confirmed DD Gene|Biallelic|Loss of function|proximal renal tubular acidosis with ocular abnormalities (pRTA-OA)|10501|604278|10545938 ;11274232|HP:0000007 ;HP:0000501 ;HP:0000518 ;HP:0000585 ;HP:0001249 ;HP:0001510 ;HP:0001995 ;HP:0002049 ;HP:0004910 ;HP:0005546
chr4|76481258|76491095|ENSG00000174792.6|ENSG00000174792.6|C4orf26|C4orf26|Confirmed DD Gene|Biallelic|Loss of function|Amyelogenesis|13414|614832|22901946; 22901946|
chr4|78978724|79465423|ENSG00000138759.13|ENSG00000138759.13|FRAS1|FRAS1|Confirmed DD Gene|Biallelic|Loss of function|Fraser syndrome (FRASS)|10393|219000|17163535 ;12766769 ;16894541 ;15838507 ;18203166 ;18671281|HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000057 ;HP:0000089 ;HP:0000148 ;HP:0000175 ;HP:0000183 ;HP:0000204 ;HP:0000238 ;HP:0000252 ;HP:0000316 ;HP:0000369 ;HP:0000377 ;HP:0000378 ;HP:0000405 ;HP:0000413 ;HP:0000431 ;HP:0000445 ;HP:0000452 ;HP:0000528 ;HP:0000561 ;HP:0000618 ;HP:0000636 ;HP:0000678 ;HP:0000689 ;HP:0000777 ;HP:0000813 ;HP:0001126 ;HP:0001249 ;HP:0001362 ;HP:0001551 ;HP:0001602 ;HP:0001607 ;HP:0001627 ;HP:0002006 ;HP:0002084 ;HP:0002089 ;HP:0002223 ;HP:0002244 ;HP:0002475 ;HP:0002536 ;HP:0003183 ;HP:0004112 ;HP:0004378 ;HP:0004497 ;HP:0005280 ;HP:0005280 ;HP:0005286 ;HP:0005325 ;HP:0005352 ;HP:0005950 ;HP:0006610 ;HP:0006714 ;HP:0007633 ;HP:0007925 ;HP:0007925 ;HP:0007957 ;HP:0007993 ;HP:0008559 ;HP:0008609 ;HP:0008678 ;HP:0009601 ;HP:0009767 ;HP:0010554
chr4|84182689|84206067|ENSG00000173085.9|ENSG00000173085.9|COQ2|COQ2|Confirmed DD Gene|Biallelic|Loss of function|Coenzyme Q10 Deficiency|12055|223806|17332895|
chr4|86936276|87515284|ENSG00000109339.14|ENSG00000109339.14|MAPK10|MAPK10|Possible DD Gene|Monoallelic|Loss of function|epileptic encephalopathy Lennox-Gastaut type (EELG)|10446|606369||HP:0000007 ;HP:0000164 ;HP:0000212 ;HP:0000256 ;HP:0000348 ;HP:0000358 ;HP:0000369 ;HP:0000494 ;HP:0000508 ;HP:0001263 ;HP:0002015 ;HP:0002020 ;HP:0002123 ;HP:0002205 ;HP:0002280 ;HP:0002319 ;HP:0002518 ;HP:0003676 ;HP:0005280 ;HP:0006887 ;HP:0006892 ;HP:0010804 ;HP:0010864
chr4|88529681|88538062|ENSG00000152591.8|ENSG00000152591.8|DSPP|DSPP|Confirmed DD Gene|Monoallelic|All missense/in frame|deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1)|11374|605594|11175790; 11175790|HP:0000006 ;HP:0000360 ;HP:0000703 ;HP:0005101 ;HP:0008619
chr4|88529681|88538062|ENSG00000152591.8|ENSG00000152591.8|DSPP|DSPP|Confirmed DD Gene|Monoallelic|Loss of function|Dentinogenesis imperfecta, Shields type II|10887|125490|14758537 ;18456718 ;11175790 ;11175779; 11175779|HP:0000006 ;HP:0000703
chr4|88529681|88538062|ENSG00000152591.8|ENSG00000152591.8|DSPP|DSPP|Confirmed DD Gene|Monoallelic|All missense/in frame|deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1)|13530|605594|11175790|HP:0000006 ;HP:0000360 ;HP:0000703 ;HP:0005101 ;HP:0008619
chr4|88571459|88585513|ENSG00000152592.9|ENSG00000152592.9|DMP1|DMP1|Confirmed DD Gene|Biallelic|Loss of function|Hypophosphatemic rickets, AR|10794|241520|17033621 ;17033625|HP:0000007 ;HP:0000407 ;HP:0001363 ;HP:0002148 ;HP:0002748 ;HP:0004912 ;HP:0011001
chr4|95679119|96079599|ENSG00000138696.6|ENSG00000138696.6|BMPR1B|BMPR1B|Confirmed DD Gene|Biallelic|Loss of function|Brachydactyly Type A2|11014|112600|14523231 ;18203755|HP:0000006 ;HP:0001822 ;HP:0004209 ;HP:0004322 ;HP:0004691 ;HP:0008096 ;HP:0009161 ;HP:0009182 ;HP:0009204 ;HP:0009464 ;HP:0009467 ;HP:0009514 ;HP:0009536 ;HP:0009568 ;HP:0009575 ;HP:0010055 ;HP:0010109 ;HP:0010194
chr4|100484918|100545156|ENSG00000138823.8|ENSG00000138823.8|MTTP|MTTP|Confirmed DD Gene|Mitochondrial|Loss of function|MERRF|10958|545000||HP:0000407 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0001324 ;HP:0001336 ;HP:0001427 ;HP:0002123 ;HP:0002151 ;HP:0003198 ;HP:0003200 ;HP:0003542
chr4|103552660|103682151|ENSG00000109323.4|ENSG00000109323.4|MANBA|MANBA|Confirmed DD Gene|Biallelic|Loss of function|lysosomal beta-mannosidosis (LYSBMAN)|10440|248510|3762648 ;2079835 ;1623631 ;16401745 ;12890191 ;1499588|HP:0000007 ;HP:0000365 ;HP:0000503 ;HP:0000718 ;HP:0000752 ;HP:0001014 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001939 ;HP:0001999 ;HP:0002167 ;HP:0002719 ;HP:0007108 ;HP:0012066
chr4|103790135|103810399|ENSG00000145354.5|ENSG00000145354.5|CISD2|CISD2|Both DD and IF|Biallelic|Loss of function|Wolfram syndrome type 2|10970|604928||HP:0000007 ;HP:0000407 ;HP:0000648 ;HP:0000819 ;HP:0001892 ;HP:0002592 ;HP:0008320
chr4|104507188|104640973|ENSG00000169836.4|ENSG00000169836.4|TACR3|TACR3|Possible DD Gene|Biallelic|All missense/in frame|Hypogonadotropic hypogonadism|10160|146110||HP:0000006 ;HP:0000044 ;HP:0000786 ;HP:0008734
chr4|107236701|107270383|ENSG00000164022.12|ENSG00000164022.12|AIMP1|AIMP1|Probable DD gene|Biallelic|Loss of function|Leukodystrophy, hypomyelinating, 3|10730|260600|21092922|HP:0000007 ;HP:0000252 ;HP:0000280 ;HP:0000505 ;HP:0001250 ;HP:0001508 ;HP:0001522 ;HP:0001622 ;HP:0002283 ;HP:0002313 ;HP:0002353 ;HP:0002415 ;HP:0002587 ;HP:0002751 ;HP:0002804 ;HP:0003269 ;HP:0003676 ;HP:0005876 ;HP:0006918 ;HP:0007371 ;HP:0008936
chr4|108852525|108874613|ENSG00000155016.13|ENSG00000155016.13|CYP2U1|CYP2U1|Confirmed DD Gene|Biallelic|Loss of function|Hereditary Spastic Paraplegia|13483|615030|23176821; 23176821|
chr4|108910870|108956331|ENSG00000138796.11|ENSG00000138796.11|HADH|HADH|Confirmed DD Gene|Biallelic|Loss of function|3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|12389|231530||HP:0000007 ;HP:0001252 ;HP:0001397 ;HP:0001510 ;HP:0001639 ;HP:0001644 ;HP:0001985 ;HP:0002173 ;HP:0002605 ;HP:0002913 ;HP:0003215 ;HP:0003812 ;HP:0004448 ;HP:0006929 ;HP:0008872
chr4|110769358|110793471|ENSG00000183423.7|ENSG00000183423.7|LRIT3|LRIT3|Probable DD gene|Biallelic|Loss of function|Autosomal-Recessive Complete Congenital Stationary Night Blindness|13499|615058|23246293; 23246293|HP:0000007 ;HP:0000486 ;HP:0000545 ;HP:0007642
chr4|111538579|111563279|ENSG00000164093.11|ENSG00000164093.11|PITX2|PITX2|Confirmed DD Gene|Monoallelic|Loss of function|Axenfeld-Rieger syndrome type 1 (RIEG1)|10287|180500|11487566 ;11301317 ;8944018|HP:0000006 ;HP:0000047 ;HP:0000219 ;HP:0000322 ;HP:0000327 ;HP:0000336 ;HP:0000431 ;HP:0000482 ;HP:0000485 ;HP:0000486 ;HP:0000501 ;HP:0000526 ;HP:0000558 ;HP:0000627 ;HP:0000668 ;HP:0000824 ;HP:0002023 ;HP:0002025 ;HP:0003828 ;HP:0004298 ;HP:0007676 ;HP:0007873 ;HP:0011500 ;HP:0200086
chr4|111538579|111563279|ENSG00000164093.11|ENSG00000164093.11|PITX2|PITX2|Confirmed DD Gene|Monoallelic|Loss of function|iridogoniodysgenesis type 2 (IRID2)|10317|137600|7581385 ;8942889|HP:0000006 ;HP:0000164 ;HP:0000501 ;HP:0001999 ;HP:0007730 ;HP:0007990
chr4|111538579|111563279|ENSG00000164093.11|ENSG00000164093.11|PITX2|PITX2|Confirmed DD Gene|Monoallelic|Loss of function|Peters anomaly (PAN)|10318|604229||HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0001087 ;HP:0007957
chr4|111538579|111563279|ENSG00000164093.11|ENSG00000164093.11|PITX2|PITX2|Confirmed DD Gene|Monoallelic|Uncertain|ring dermoid of cornea (RDC)|11237|180550|15591271|HP:0000006 ;HP:0000481 ;HP:0000502
chr4|113558120|113578748|ENSG00000174720.11|ENSG00000174720.11|LARP7|LARP7|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10029||21937992|
chr4|119201193|119274158|ENSG00000164099.3|ENSG00000164099.3|PRSS12|PRSS12|Confirmed DD Gene|Biallelic|Loss of function|mental retardation autosomal recessive type 1 (MRT1)|10457|249500|12459588|HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0001249 ;HP:0003487 ;HP:0006801
chr4|122737599|122745087|ENSG00000145386.5|ENSG00000145386.5|CCNA2|CCNA2|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10012||21937992|
chr4|122745595|122791652|ENSG00000138686.5|ENSG00000138686.5|BBS7|BBS7|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 7 (BBS7)|10345|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr4|123653857|123666098|ENSG00000181004.5|ENSG00000181004.5|BBS12|BBS12|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 12 (BBS12)|10340|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr4|126237554|126414087|ENSG00000196159.7|ENSG00000196159.7|FAT4|FAT4|Confirmed DD Gene|Biallelic|Loss of function|periventricular neuronal heterotopia|13675||24056717|
chr4|128838960|128887150|ENSG00000164073.5|ENSG00000164073.5|MFSD8|MFSD8|Confirmed DD Gene|Biallelic|Loss of function|MFSD8-Related Neuronal Ceroid-Lipofuscinosis|12671|610951||HP:0000007 ;HP:0000488 ;HP:0000572 ;HP:0000618 ;HP:0000648 ;HP:0000750 ;HP:0001251 ;HP:0001263 ;HP:0001268 ;HP:0001272 ;HP:0002059 ;HP:0002123 ;HP:0002180 ;HP:0002353 ;HP:0002360 ;HP:0003621 ;HP:0003678
chr4|140222609|140341187|ENSG00000164134.8|ENSG00000164134.8|NAA15|NAA15|Probable DD gene|Monoallelic|Loss of function|Congenital heart disease|13671||23665959|
chr4|146539415|146581187|ENSG00000151611.9|ENSG00000151611.9|MMAA|MMAA|Confirmed DD Gene|Biallelic|Loss of function|methylmalonic aciduria type cblA|10956|251100|12438653|HP:0000007 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001337 ;HP:0001508 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001903 ;HP:0001942 ;HP:0001944 ;HP:0001946 ;HP:0001987 ;HP:0002013 ;HP:0002098 ;HP:0002154 ;HP:0002240 ;HP:0002912 ;HP:0002919 ;HP:0003145 ;HP:0003210 ;HP:0003593 ;HP:0008872 ;HP:0012120
chr4|148558936|148605381|ENSG00000164169.8|ENSG00000164169.8|PRMT10|PRMT10|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10035||21937992|
chr4|151185594|151936879|ENSG00000198589.6|ENSG00000198589.6|LRBA|LRBA|Probable DD gene|Biallelic|Loss of function|Childhood-onset hypogammaglobulinemia|13372|614700|22608502|HP:0000007 ;HP:0000403 ;HP:0000509 ;HP:0000821 ;HP:0001369 ;HP:0001508 ;HP:0001510 ;HP:0001873 ;HP:0001890 ;HP:0002028 ;HP:0002090 ;HP:0002099 ;HP:0002110 ;HP:0002583 ;HP:0002716 ;HP:0002720 ;HP:0002850 ;HP:0003676 ;HP:0005263 ;HP:0006528 ;HP:0011108 ;HP:0100759
chr4|151503077|151505843|ENSG00000181541.4|ENSG00000181541.4|MAB21L2|MAB21L2|Confirmed DD Gene|Monoallelic|Activating|MICROPHTHALMIA, SYNDROMIC 14; MCOPS14|13721|615877|24906020|
chr4|151503077|151505843|ENSG00000181541.4|ENSG00000181541.4|MAB21L2|MAB21L2|Confirmed DD Gene|Biallelic|Loss of function|MICROPHTHALMIA, SYNDROMIC 14; MCOPS14|13722|615877|24906020|
chr4|155548097|155674270|ENSG00000121207.7|ENSG00000121207.7|LRAT|LRAT|Probable DD gene|Biallelic|Loss of function|Leber Congenital Amaurosis|12633|613341||HP:0000007 ;HP:0000510 ;HP:0000543 ;HP:0000550 ;HP:0000556 ;HP:0000613 ;HP:0000639 ;HP:0000654 ;HP:0000662 ;HP:0000980 ;HP:0002527 ;HP:0007875
chr4|159593277|159630775|ENSG00000171503.7|ENSG00000171503.7|ETFDH|ETFDH|Confirmed DD Gene|Biallelic|Loss of function|glutaric aciduria type 2C|10950|231680||HP:0000007 ;HP:0000078 ;HP:0000113 ;HP:0000256 ;HP:0000260 ;HP:0000348 ;HP:0000377 ;HP:0000506 ;HP:0000519 ;HP:0000803 ;HP:0000806 ;HP:0000952 ;HP:0001252 ;HP:0001302 ;HP:0001324 ;HP:0001325 ;HP:0001397 ;HP:0001943 ;HP:0001999 ;HP:0002013 ;HP:0002018 ;HP:0002089 ;HP:0002098 ;HP:0002171 ;HP:0002240 ;HP:0002614 ;HP:0002909 ;HP:0003076 ;HP:0003150 ;HP:0003219 ;HP:0003490 ;HP:0003530 ;HP:0003647 ;HP:0003811 ;HP:0005280
chr4|166794410|167025047|ENSG00000038295.3|ENSG00000038295.3|TLL1|TLL1|Possible DD Gene|Monoallelic|Uncertain|atrial septal defect type 6 (ASD6)|11285|613087||HP:0000006 ;HP:0001631 ;HP:0001662 ;HP:0005110
chr4|170314426|170533780|ENSG00000137601.11|ENSG00000137601.11|NEK1|NEK1|Confirmed DD Gene|Biallelic|Loss of function|Short rib-polydactyly syndorme, type II|10770|263520||HP:0000007 ;HP:0000062 ;HP:0000113 ;HP:0000161 ;HP:0000773 ;HP:0001162 ;HP:0001177 ;HP:0001302 ;HP:0001320 ;HP:0001534 ;HP:0001789 ;HP:0002089 ;HP:0002589 ;HP:0002983 ;HP:0005349 ;HP:0005716 ;HP:0005766 ;HP:0005817 ;HP:0005873 ;HP:0100255
chr4|170314426|170533780|ENSG00000137601.11|ENSG00000137601.11|NEK1|NEK1|Confirmed DD Gene|Digenic|Loss of function|Short rib-polydactyly syndorme, type II|10832|263520||HP:0000007 ;HP:0000062 ;HP:0000113 ;HP:0000161 ;HP:0000773 ;HP:0001162 ;HP:0001177 ;HP:0001302 ;HP:0001320 ;HP:0001534 ;HP:0001789 ;HP:0002089 ;HP:0002589 ;HP:0002983 ;HP:0005349 ;HP:0005716 ;HP:0005766 ;HP:0005817 ;HP:0005873 ;HP:0100255
chr4|175411328|175444305|ENSG00000164120.9|ENSG00000164120.9|HPGD|HPGD|Both DD and IF|Biallelic|Loss of function|Cranioosteoarthropathy|10812|259100||HP:0000007 ;HP:0000156 ;HP:0000239 ;HP:0000280 ;HP:0000508 ;HP:0000767 ;HP:0000890 ;HP:0000938 ;HP:0000939 ;HP:0000972 ;HP:0000975 ;HP:0000976 ;HP:0001051 ;HP:0001217 ;HP:0001369 ;HP:0001376 ;HP:0001519 ;HP:0001582 ;HP:0001643 ;HP:0002645 ;HP:0002684 ;HP:0002829 ;HP:0003577 ;HP:0009771
chr4|178351924|178363657|ENSG00000038002.4|ENSG00000038002.4|AGA|AGA|Confirmed DD Gene|Biallelic|Loss of function|aspartylglucosaminuria (AGU)|10334|208400|6883788 ;1765378 ;8776587|HP:0000007 ;HP:0000053 ;HP:0000154 ;HP:0000158 ;HP:0000179 ;HP:0000248 ;HP:0000252 ;HP:0000280 ;HP:0000283 ;HP:0000463 ;HP:0000518 ;HP:0000750 ;HP:0000926 ;HP:0000943 ;HP:0001061 ;HP:0001071 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001257 ;HP:0001264 ;HP:0001388 ;HP:0001609 ;HP:0001653 ;HP:0001875 ;HP:0001922 ;HP:0001939 ;HP:0002014 ;HP:0002059 ;HP:0002205 ;HP:0002240 ;HP:0002376 ;HP:0002650 ;HP:0002684 ;HP:0002738 ;HP:0002750 ;HP:0002756 ;HP:0002808 ;HP:0003302 ;HP:0003304 ;HP:0004322 ;HP:0004568 ;HP:0005280 ;HP:0012068 ;HP:0100790
chr4|184580420|184634745|ENSG00000168538.11|ENSG00000168538.11|TRAPPC11|TRAPPC11|Probable DD gene|Biallelic|Loss of function|Muscular dystrophy, limb-girdle, type 2S	|13650|615356|23830518|
chr5|218356|256815|ENSG00000073578.12|ENSG00000073578.12|SDHA|SDHA|Confirmed DD Gene|Biallelic|All missense/in frame|Leigh Syndrome (nuclear DNA mutation)|13071|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr5|1392909|1445545|ENSG00000142319.14|ENSG00000142319.14|SLC6A3|SLC6A3|Confirmed DD Gene|Biallelic|Loss of function|Parkinsonism-Dystonia, Infantile|13147|319029||
chr5|6599352|6633404|ENSG00000037474.10|ENSG00000037474.10|NSUN2|NSUN2|Probable DD gene|Biallelic|All missense/in frame|Autosomal- Recessive Intellectual Disability MRT5|10055|611091|22541559 ;22541562 ;21063731 ;22577224|HP:0000007 ;HP:0000252 ;HP:0000275 ;HP:0000276 ;HP:0000316 ;HP:0000319 ;HP:0000322 ;HP:0000331 ;HP:0000426 ;HP:0000430 ;HP:0000431 ;HP:0000448 ;HP:0000486 ;HP:0000506 ;HP:0000574 ;HP:0000581 ;HP:0000601 ;HP:0000664 ;HP:0000964 ;HP:0001250 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001347 ;HP:0001518 ;HP:0001761 ;HP:0001771 ;HP:0003236 ;HP:0004322 ;HP:0008070 ;HP:0008897 ;HP:0008936
chr5|7851299|7906138|ENSG00000124275.10|ENSG00000124275.10|MTRR|MTRR|Confirmed DD Gene|Biallelic|Loss of function|Homocystinuria-megaloblastic anemia, cbl E type	|13583|236270|9501215 ;15714522 ;12555939|HP:0000007 ;HP:0001252 ;HP:0001254 ;HP:0001889 ;HP:0002156 ;HP:0003223 ;HP:0003524 ;HP:0006887
chr5|14704910|14871887|ENSG00000154122.8|ENSG00000154122.8|ANKH|ANKH|Confirmed DD Gene|Monoallelic|All missense/in frame|chondrocalcinosis 2 (CCAL2)|10167|118600|9915952 ;8528213 ;12297987 ;13130483 ;12297989 ;8244341|HP:0000006 ;HP:0002758 ;HP:0003040 ;HP:0003581 ;HP:0003674 ;HP:0005017
chr5|14704910|14871887|ENSG00000154122.8|ENSG00000154122.8|ANKH|ANKH|Confirmed DD Gene|Monoallelic|Loss of function|craniometaphyseal dysplasia Jackson type (CMDJ)|10877|123000|20358596 ;11326272 ;14322785 ;2712793|HP:0000006 ;HP:0000164 ;HP:0000256 ;HP:0000303 ;HP:0000316 ;HP:0000410 ;HP:0000925 ;HP:0001507 ;HP:0001739 ;HP:0001742 ;HP:0002644 ;HP:0002694 ;HP:0003016 ;HP:0004407 ;HP:0004975 ;HP:0006384 ;HP:0010628
chr5|16473147|16617167|ENSG00000154153.9|ENSG00000154153.9|FAM134B|FAM134B|Confirmed DD Gene|Biallelic|Loss of function|Neuropathy, hereditary sensory and autonomic, type IIB|10823|613115|19838196|HP:0000007 ;HP:0000020 ;HP:0001069 ;HP:0001257 ;HP:0001265 ;HP:0001284 ;HP:0002754 ;HP:0003477 ;HP:0003621 ;HP:0003676 ;HP:0006121 ;HP:0009771
chr5|36876861|37066515|ENSG00000164190.12|ENSG00000164190.12|NIPBL|NIPBL|Confirmed DD Gene|Monoallelic|Loss of function|Cornelia de Lange syndrome type 1 (CDLS1)|10460|122470|16799922 ;15318302 ;15146186 ;11391654 ;15146185|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000059 ;HP:0000076 ;HP:0000086 ;HP:0000089 ;HP:0000093 ;HP:0000107 ;HP:0000108 ;HP:0000113 ;HP:0000156 ;HP:0000175 ;HP:0000204 ;HP:0000219 ;HP:0000248 ;HP:0000252 ;HP:0000343 ;HP:0000347 ;HP:0000369 ;HP:0000405 ;HP:0000407 ;HP:0000453 ;HP:0000463 ;HP:0000470 ;HP:0000482 ;HP:0000483 ;HP:0000486 ;HP:0000508 ;HP:0000520 ;HP:0000527 ;HP:0000545 ;HP:0000588 ;HP:0000639 ;HP:0000648 ;HP:0000664 ;HP:0000684 ;HP:0000687 ;HP:0000750 ;HP:0000776 ;HP:0000879 ;HP:0000954 ;HP:0000965 ;HP:0001007 ;HP:0001180 ;HP:0001249 ;HP:0001250 ;HP:0001276 ;HP:0001373 ;HP:0001377 ;HP:0001511 ;HP:0001551 ;HP:0001612 ;HP:0001629 ;HP:0001770 ;HP:0001873 ;HP:0002020 ;HP:0002021 ;HP:0002036 ;HP:0002090 ;HP:0002162 ;HP:0002553 ;HP:0002557 ;HP:0002714 ;HP:0002750 ;HP:0002983 ;HP:0002984 ;HP:0002987 ;HP:0003083 ;HP:0003745 ;HP:0003812 ;HP:0003997 ;HP:0004209 ;HP:0004322 ;HP:0004691 ;HP:0004735 ;HP:0004785 ;HP:0005217 ;HP:0005280 ;HP:0005565 ;HP:0005815 ;HP:0007665 ;HP:0008721 ;HP:0009623 ;HP:0009829 ;HP:0100716 ;HP:0200086
chr5|37106330|37249530|ENSG00000197603.9|ENSG00000197603.9|C5orf42|C5orf42|Confirmed DD Gene|Biallelic|Loss of function|Joubert Syndrome|13367|614615||HP:0000007 ;HP:0000657 ;HP:0001159 ;HP:0001251 ;HP:0001263 ;HP:0001320 ;HP:0010442
chr5|41730167|41870621|ENSG00000083720.8|ENSG00000083720.8|OXCT1|OXCT1|Confirmed DD Gene|Biallelic|Loss of function|succinyl-CoA-3-ketoacid-CoA transferase deficiency|10960|245050|10964512 ;23281106 ;1405472 ;9671268|HP:0000007 ;HP:0002013 ;HP:0002789 ;HP:0002919 ;HP:0005974
chr5|42423879|42721979|ENSG00000112964.9|ENSG00000112964.9|GHR|GHR|Confirmed DD Gene|Biallelic|Loss of function|Pituitary Dwarfism II|12329|262500|2779634 ;8488849 ;17405847 ;2813379 ;9467570 ;9360529 ;11468686 ;15001620 ;12679461 ;2233903 ;15536163 ;9661642 ;9851797 ;8626815|HP:0000007 ;HP:0000119 ;HP:0000274 ;HP:0000592 ;HP:0000818 ;HP:0001367 ;HP:0001620 ;HP:0001939 ;HP:0003799 ;HP:0004322 ;HP:0009826
chr5|44303646|44389808|ENSG00000070193.4|ENSG00000070193.4|FGF10|FGF10|Confirmed DD Gene|Monoallelic|Loss of function|LADD syndrome|10780|149730|16630169 ;16501574 ;16501574 ;16501574|HP:0000006 ;HP:0000104 ;HP:0000198 ;HP:0000217 ;HP:0000316 ;HP:0000337 ;HP:0000378 ;HP:0000410 ;HP:0000494 ;HP:0000495 ;HP:0000506 ;HP:0000522 ;HP:0000579 ;HP:0000620 ;HP:0000629 ;HP:0000668 ;HP:0000670 ;HP:0000680 ;HP:0000974 ;HP:0001092 ;HP:0001233 ;HP:0001245 ;HP:0002984 ;HP:0003022 ;HP:0003974 ;HP:0004209 ;HP:0005707 ;HP:0006297 ;HP:0007656 ;HP:0007732 ;HP:0007892 ;HP:0007900 ;HP:0008743 ;HP:0009462 ;HP:0009637 ;HP:0009740 ;HP:0009741 ;HP:0009944 ;HP:0010055 ;HP:0011065 ;HP:0100258 ;HP:0100583
chr5|45259349|45696253|ENSG00000164588.4|ENSG00000164588.4|HCN1|HCN1|Confirmed DD Gene|Monoallelic|All missense/in frame|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24|13745|615871|24747641|
chr5|52391509|52405893|ENSG00000164172.14|ENSG00000164172.14|MOCS2|MOCS2|Confirmed DD Gene|Biallelic|Loss of function|Molybdenum Cofactor Deficiency|11052|252150||HP:0000007 ;HP:0000804 ;HP:0001083 ;HP:0001249 ;HP:0001250 ;HP:0001285 ;HP:0002059 ;HP:0002932 ;HP:0003166 ;HP:0003359 ;HP:0003534 ;HP:0003570 ;HP:0003606 ;HP:0003643 ;HP:0003739 ;HP:0003808 ;HP:0008872 ;HP:0010934 ;HP:0011814 ;HP:0011935 ;HP:0011942 ;HP:0011943
chr5|52856463|52979168|ENSG00000164258.7|ENSG00000164258.7|NDUFS4|NDUFS4|Confirmed DD Gene|Biallelic|Loss of function|Leigh Syndrome (nuclear DNA mutation)|12726|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr5|52856463|52979168|ENSG00000164258.7|ENSG00000164258.7|NDUFS4|NDUFS4|Confirmed DD Gene|Biallelic|Loss of function|Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)|12727|252010||HP:0000007 ;HP:0000407 ;HP:0000486 ;HP:0000508 ;HP:0000543 ;HP:0000618 ;HP:0000639 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001257 ;HP:0001259 ;HP:0001263 ;HP:0001265 ;HP:0001272 ;HP:0001324 ;HP:0001347 ;HP:0001399 ;HP:0001423 ;HP:0001427 ;HP:0001508 ;HP:0001510 ;HP:0001639 ;HP:0001943 ;HP:0002013 ;HP:0002093 ;HP:0002181 ;HP:0002376 ;HP:0002415 ;HP:0002490 ;HP:0003128 ;HP:0003202 ;HP:0003487 ;HP:0003546 ;HP:0003812 ;HP:0004481 ;HP:0006965 ;HP:0008316 ;HP:0008872
chr5|52856463|52979168|ENSG00000164258.7|ENSG00000164258.7|NDUFS4|NDUFS4|Confirmed DD Gene|Biallelic|Loss of function|Leigh Syndrome|13551|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr5|54526980|54529508|ENSG00000152669.8|ENSG00000152669.8|CCNO|CCNO|Confirmed DD Gene|Biallelic|Loss of function|CILIARY DYSKINESIA, PRIMARY, 29; CILD29|13746|615872|24747639|
chr5|56111401|56191979|ENSG00000095015.5|ENSG00000095015.5|MAP3K1|MAP3K1|Confirmed DD Gene|Monoallelic|Loss of function|46XY sex reversal 6|10733|613762|5419329 ;12476449 ;21129722|HP:0000006 ;HP:0000041 ;HP:0000057 ;HP:0000150 ;HP:0001007 ;HP:0002215 ;HP:0012245 ;HP:0100621
chr5|58264865|59817947|ENSG00000113448.12|ENSG00000113448.12|PDE4D|PDE4D|Confirmed DD Gene|Monoallelic|Activating|Acrodysostosis|10108|614613|22464252 ;23033274 ;22464250; 22464250|HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000272 ;HP:0000311 ;HP:0000463 ;HP:0000750 ;HP:0000851 ;HP:0001249 ;HP:0001263 ;HP:0001511 ;HP:0001513 ;HP:0003196 ;HP:0003416 ;HP:0003502 ;HP:0005280 ;HP:0005616 ;HP:0009803 ;HP:0010049 ;HP:0010579 ;HP:0010743
chr5|60169658|60240900|ENSG00000049167.9|ENSG00000049167.9|ERCC8|ERCC8|Confirmed DD Gene|Biallelic|Loss of function|Cockayne syndrome type A (CSA)|10382|216400|14661080 ;7664335 ;15744458|HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000083 ;HP:0000093 ;HP:0000135 ;HP:0000252 ;HP:0000292 ;HP:0000303 ;HP:0000377 ;HP:0000407 ;HP:0000417 ;HP:0000486 ;HP:0000518 ;HP:0000540 ;HP:0000580 ;HP:0000633 ;HP:0000639 ;HP:0000648 ;HP:0000649 ;HP:0000670 ;HP:0000680 ;HP:0000684 ;HP:0000685 ;HP:0000689 ;HP:0000726 ;HP:0000762 ;HP:0000822 ;HP:0000858 ;HP:0000958 ;HP:0000970 ;HP:0000987 ;HP:0000992 ;HP:0001000 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001260 ;HP:0001271 ;HP:0001288 ;HP:0001324 ;HP:0001337 ;HP:0001376 ;HP:0001425 ;HP:0001511 ;HP:0001744 ;HP:0002059 ;HP:0002135 ;HP:0002240 ;HP:0002343 ;HP:0002545 ;HP:0002684 ;HP:0002808 ;HP:0002866 ;HP:0003224 ;HP:0003278 ;HP:0003357 ;HP:0003469 ;HP:0003758 ;HP:0005328 ;HP:0006958 ;HP:0007759 ;HP:0007814 ;HP:0008839 ;HP:0008850 ;HP:0010234 ;HP:0011675 ;HP:0200077
chr5|60240956|60448853|ENSG00000164182.6|ENSG00000164182.6|NDUFAF2|NDUFAF2|Probable DD gene|Biallelic|Loss of function|Leigh Syndrome (nuclear DNA mutation)|12721|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr5|61601989|61833076|ENSG00000068796.12|ENSG00000068796.12|KIF2A|KIF2A|Probable DD gene|Monoallelic|Dominant negative|Malformations of cortical development and microcephaly.|13557||23603762|
chr5|67511548|67597649|ENSG00000145675.10|ENSG00000145675.10|PIK3R1|PIK3R1|Confirmed DD Gene|Monoallelic|All missense/in frame|SHORT syndrome	|13647|269880|23810378|HP:0000006 ;HP:0000023 ;HP:0000325 ;HP:0000347 ;HP:0000400 ;HP:0000407 ;HP:0000430 ;HP:0000431 ;HP:0000485 ;HP:0000490 ;HP:0000501 ;HP:0000506 ;HP:0000518 ;HP:0000545 ;HP:0000558 ;HP:0000668 ;HP:0000684 ;HP:0000689 ;HP:0000750 ;HP:0000831 ;HP:0000833 ;HP:0001388 ;HP:0001511 ;HP:0001518 ;HP:0002007 ;HP:0002715 ;HP:0002750 ;HP:0003074 ;HP:0003561 ;HP:0009466 ;HP:0010580 ;HP:0010751 ;HP:0011220 ;HP:0200074
chr5|67511548|67597649|ENSG00000145675.10|ENSG00000145675.10|PIK3R1|PIK3R1|Confirmed DD Gene|Biallelic|Loss of function|Agammaglobulinemia 7, autosomal recessive	|13648|615214|22351933|HP:0000007 ;HP:0001875 ;HP:0002205 ;HP:0003593 ;HP:0004432
chr5|68710939|68740157|ENSG00000152939.10|ENSG00000152939.10|MARVELD2|MARVELD2|Probable DD gene|Biallelic|Loss of function|deafness autosomal recessive type 49|11498|610153|18084694 ;17186462|HP:0000007 ;HP:0000399
chr5|70883115|70954531|ENSG00000131844.11|ENSG00000131844.11|MCCC2|MCCC2|Confirmed DD Gene|Biallelic|Loss of function|3-Methylcrotonyl-CoA carboxylase 2 deficiency	|12656|210210||HP:0000007 ;HP:0001051 ;HP:0001252 ;HP:0001596 ;HP:0001992 ;HP:0001993 ;HP:0003108 ;HP:0003202 ;HP:0003353
chr5|73935848|74018472|ENSG00000049860.9|ENSG00000049860.9|HEXB|HEXB|Confirmed DD Gene|Biallelic|Loss of function|GM2-gangliosidosis type 2 (GM2G2)|10855|268800|2921040 ;3014997 ;9888387 ;8045559 ;571983 ;2973515 ;1531140 ;10724 ;18758829 ;7633435|HP:0000020 ;HP:0000158 ;HP:0000256 ;HP:0000280 ;HP:0000802 ;HP:0000966 ;HP:0000975 ;HP:0001251 ;HP:0001260 ;HP:0001278 ;HP:0001324 ;HP:0001347 ;HP:0001433 ;HP:0001640 ;HP:0002028 ;HP:0002380 ;HP:0002574 ;HP:0003202 ;HP:0004343 ;HP:0006901 ;HP:0007272 ;HP:0007839 ;HP:0010729
chr5|78073032|78281910|ENSG00000113273.11|ENSG00000113273.11|ARSB|ARSB|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 6 (MPS6)|10830|253200|17643332 ;8723688 ;1550123 ;8651289 ;1301949 ;1718978|HP:0000007 ;HP:0000023 ;HP:0000158 ;HP:0000238 ;HP:0000256 ;HP:0000268 ;HP:0000280 ;HP:0000365 ;HP:0000501 ;HP:0000884 ;HP:0000885 ;HP:0000943 ;HP:0001007 ;HP:0001171 ;HP:0001385 ;HP:0001387 ;HP:0001537 ;HP:0001638 ;HP:0001654 ;HP:0001744 ;HP:0002240 ;HP:0002318 ;HP:0002656 ;HP:0002788 ;HP:0002857 ;HP:0002866 ;HP:0002869 ;HP:0002938 ;HP:0003016 ;HP:0003025 ;HP:0003274 ;HP:0003300 ;HP:0003311 ;HP:0003521 ;HP:0005280 ;HP:0007759 ;HP:0008301 ;HP:0008432 ;HP:0011941
chr5|79922047|79950802|ENSG00000228716.2|ENSG00000228716.2|DHFR|DHFR|Confirmed DD Gene|Biallelic|All missense/in frame|Megaloblastic anemia due to dihydrofolate reductase deficiency|10146|613839|21310276 ;21310277|HP:0000007 ;HP:0000980 ;HP:0001251 ;HP:0001263 ;HP:0001873 ;HP:0001876 ;HP:0001889 ;HP:0002059 ;HP:0002121 ;HP:0002240 ;HP:0002421 ;HP:0003828 ;HP:0005484 ;HP:0011968
chr5|86563705|86687748|ENSG00000145715.10|ENSG00000145715.10|RASA1|RASA1|Confirmed DD Gene|Monoallelic|Loss of function|capillary malformation-arteriovenous malformation (CMAVM)|10495|608354|14639529 ;18363760|HP:0000006 ;HP:0005306
chr5|86563705|86687748|ENSG00000145715.10|ENSG00000145715.10|RASA1|RASA1|Confirmed DD Gene|Monoallelic|Loss of function|Parkes Weber syndrome (PKWS)|10630|608355|14639529|
chr5|88013975|88199922|ENSG00000081189.9|ENSG00000081189.9|MEF2C|MEF2C|Confirmed DD Gene|Monoallelic|Loss of function|mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME)|10442|613443|23001426 ;19592390 ;20513142|HP:0000316 ;HP:0000322 ;HP:0000331 ;HP:0000337 ;HP:0000369 ;HP:0000463 ;HP:0000582 ;HP:0000817 ;HP:0001250 ;HP:0001270 ;HP:0002119 ;HP:0002500 ;HP:0002540 ;HP:0002714 ;HP:0003196 ;HP:0005280 ;HP:0010864
chr5|92919043|92930321|ENSG00000175745.7|ENSG00000175745.7|NR2F1|NR2F1|Confirmed DD Gene|Monoallelic|Loss of function|Bosch-Boonstra optic atrophy syndrome	|13710|615722|24462372|
chr5|94799599|94890711|ENSG00000198677.6|ENSG00000198677.6|TTC37|TTC37|Confirmed DD Gene|Biallelic|Loss of function| Trichohepatoenteric syndrome|13365|222470|21120949 ;20176027|HP:0000007 ;HP:0000154 ;HP:0000160 ;HP:0000193 ;HP:0000316 ;HP:0000343 ;HP:0000369 ;HP:0000445 ;HP:0000457 ;HP:0000463 ;HP:0000494 ;HP:0000520 ;HP:0000952 ;HP:0001394 ;HP:0001395 ;HP:0001396 ;HP:0001399 ;HP:0001508 ;HP:0001511 ;HP:0001518 ;HP:0001561 ;HP:0001629 ;HP:0001636 ;HP:0001642 ;HP:0001659 ;HP:0001732 ;HP:0001894 ;HP:0002007 ;HP:0002014 ;HP:0002041 ;HP:0002212 ;HP:0002213 ;HP:0002224 ;HP:0002240 ;HP:0002299 ;HP:0002715 ;HP:0003073 ;HP:0003235 ;HP:0004322 ;HP:0004734 ;HP:0006267 ;HP:0008070 ;HP:0008551 ;HP:0009886 ;HP:0009891 ;HP:0011031 ;HP:0011220 ;HP:0011473 ;HP:0011877 ;HP:0012023 ;HP:0100543
chr5|118788138|118972894|ENSG00000133835.10|ENSG00000133835.10|HSD17B4|HSD17B4|Confirmed DD Gene|Biallelic|Loss of function|Perrault syndrome|10744|233400|4061497|HP:0000007 ;HP:0000133 ;HP:0000156 ;HP:0000407 ;HP:0000639 ;HP:0000786 ;HP:0000837 ;HP:0000939 ;HP:0001264 ;HP:0001265 ;HP:0001270 ;HP:0001284 ;HP:0001761 ;HP:0001762 ;HP:0002066 ;HP:0002650 ;HP:0003812 ;HP:0004322 ;HP:0007141 ;HP:0007941
chr5|118788138|118972894|ENSG00000133835.10|ENSG00000133835.10|HSD17B4|HSD17B4|Confirmed DD Gene|Biallelic|Loss of function|D-bifunctional protein deficiency|10775|261515|11992265 ;11743515 ;9345094 ;10400999 ;9482850 ;2921319|HP:0000007 ;HP:0000107 ;HP:0000156 ;HP:0000239 ;HP:0000256 ;HP:0000268 ;HP:0000270 ;HP:0000278 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000348 ;HP:0000369 ;HP:0000486 ;HP:0000550 ;HP:0000572 ;HP:0000582 ;HP:0000639 ;HP:0000762 ;HP:0000767 ;HP:0000938 ;HP:0001171 ;HP:0001250 ;HP:0001263 ;HP:0001319 ;HP:0001396 ;HP:0001397 ;HP:0001408 ;HP:0001508 ;HP:0001561 ;HP:0001762 ;HP:0001765 ;HP:0001791 ;HP:0001999 ;HP:0002007 ;HP:0002079 ;HP:0002119 ;HP:0002126 ;HP:0002171 ;HP:0002240 ;HP:0002539 ;HP:0002750 ;HP:0002832 ;HP:0002910 ;HP:0003199 ;HP:0003593 ;HP:0005257 ;HP:0005280 ;HP:0006872 ;HP:0007058 ;HP:0007266 ;HP:0007360 ;HP:0007371 ;HP:0008207 ;HP:0008872
chr5|125877533|125931110|ENSG00000164904.11|ENSG00000164904.11|ALDH7A1|ALDH7A1|Confirmed DD Gene|Biallelic|Loss of function|Pyridoxine-Dependent Epilepsy|11795|266100|16491085 ;17068770 ;17721876; 16491085|HP:0000007 ;HP:0000750 ;HP:0001249 ;HP:0001252 ;HP:0001557 ;HP:0001939 ;HP:0002069 ;HP:0002123 ;HP:0002133 ;HP:0002643
chr5|126626523|126801429|ENSG00000145794.12|ENSG00000145794.12|MEGF10|MEGF10|Confirmed DD Gene|Biallelic|Loss of function|Myopathy, early-onset, areflexia, respiratory distress, and dysphagia|10675|614399|22371254 ;17236770 ;22101682|HP:0000007 ;HP:0000156 ;HP:0000175 ;HP:0000767 ;HP:0001250 ;HP:0001265 ;HP:0001270 ;HP:0001284 ;HP:0001319 ;HP:0001508 ;HP:0001558 ;HP:0001611 ;HP:0001762 ;HP:0002015 ;HP:0002091 ;HP:0002093 ;HP:0002421 ;HP:0002650 ;HP:0003577 ;HP:0003828 ;HP:0006597 ;HP:0009046 ;HP:0010628 ;HP:0100490
chr5|127593601|127994878|ENSG00000138829.6|ENSG00000138829.6|FBN2|FBN2|Confirmed DD Gene|Monoallelic|Dominant negative|Congenital Contractural Arachnodactyly|10265|121050|9737771 ;10797416 ;9199560 ;9106527 ;20799338 ;8900230 ;11281275|HP:0000006 ;HP:0000156 ;HP:0000248 ;HP:0000268 ;HP:0000347 ;HP:0000470 ;HP:0000545 ;HP:0000768 ;HP:0000938 ;HP:0001083 ;HP:0001166 ;HP:0001181 ;HP:0001270 ;HP:0001519 ;HP:0001629 ;HP:0001631 ;HP:0001634 ;HP:0001643 ;HP:0001647 ;HP:0001653 ;HP:0001762 ;HP:0001840 ;HP:0002007 ;HP:0002616 ;HP:0002751 ;HP:0002987 ;HP:0002999 ;HP:0003273 ;HP:0006380 ;HP:0008453 ;HP:0008962 ;HP:0009465 ;HP:0009698 ;HP:0009901 ;HP:0010499
chr5|130494720|130507428|ENSG00000169567.7|ENSG00000169567.7|HINT1|HINT1|Confirmed DD Gene|Biallelic|Loss of function|Neuromyotonia and axonal neuropathy, autosomal recessive	|13462|137200|22961002; 22961002|HP:0000007 ;HP:0000975 ;HP:0001760 ;HP:0002380 ;HP:0002411 ;HP:0002486 ;HP:0003236 ;HP:0003390 ;HP:0003394 ;HP:0003552 ;HP:0003676 ;HP:0009027
chr5|131705444|131731306|ENSG00000197375.8|ENSG00000197375.8|SLC22A5|SLC22A5|Confirmed DD Gene|Biallelic|Loss of function|Systemic Primary Carnitine Deficiency|13124|212140|10425211 ;15714519 ;20027113 ;9700603 ;3974805 ;9916797 ;9634512 ;2235122 ;10480371 ;11058897 ;10051646|HP:0000007 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001262 ;HP:0001289 ;HP:0001298 ;HP:0001324 ;HP:0001324 ;HP:0001397 ;HP:0001508 ;HP:0001635 ;HP:0001639 ;HP:0001640 ;HP:0001706 ;HP:0001987 ;HP:0001988 ;HP:0002013 ;HP:0002240 ;HP:0002910 ;HP:0003198 ;HP:0005959
chr5|131891711|131980313|ENSG00000113522.9|ENSG00000113522.9|RAD50|RAD50|Possible DD Gene|Biallelic|Loss of function|Nijmegen breakage syndrome-like disorder|10997|613078||HP:0000007 ;HP:0000252 ;HP:0000540 ;HP:0001249 ;HP:0001251 ;HP:0001257 ;HP:0004322 ;HP:0010997
chr5|132202252|132203723|ENSG00000164405.6|ENSG00000164405.6|UQCRQ|UQCRQ|Probable DD gene|Biallelic|All missense/in frame|Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related|10211|319211||
chr5|134363425|134370503|ENSG00000069011.11|ENSG00000069011.11|PITX1|PITX1|Probable DD gene|Monoallelic|Loss of function|congenital clubfoot|11654|119800|18950742 ;22258522|HP:0000006 ;HP:0001762 ;HP:0001829 ;HP:0003065 ;HP:0003829
chr5|134363425|134370503|ENSG00000069011.11|ENSG00000069011.11|PITX1|PITX1|Probable DD gene|Monoallelic|Cis-regulatory or promotor mutation|Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus|13454|||
chr5|138282409|138629246|ENSG00000120725.8|ENSG00000120725.8|SIL1|SIL1|Confirmed DD Gene|Biallelic|Loss of function|Marinesco-Sjoegren syndrome (MSS)|10507|248800|16282978 ;18285827 ;17026626 ;16282977 ;20111056|HP:0000007 ;HP:0000252 ;HP:0000486 ;HP:0000519 ;HP:0000639 ;HP:0000815 ;HP:0001249 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001371 ;HP:0001508 ;HP:0001763 ;HP:0002066 ;HP:0002070 ;HP:0002650 ;HP:0002673 ;HP:0002808 ;HP:0002967 ;HP:0003198 ;HP:0003202 ;HP:0003236 ;HP:0003323 ;HP:0003593 ;HP:0003687 ;HP:0004322 ;HP:0008278 ;HP:0010049 ;HP:0010743
chr5|140052758|140071609|ENSG00000170445.8|ENSG00000170445.8|HARS|HARS|Possible DD Gene|Biallelic|All missense/in frame|Usher syndrome|13451|614504|22279524|HP:0000007 ;HP:0000365 ;HP:0000505 ;HP:0000543 ;HP:0000613 ;HP:0000666 ;HP:0001251 ;HP:0002194
chr5|149340300|149373018|ENSG00000155850.7|ENSG00000155850.7|SLC26A2|SLC26A2|Confirmed DD Gene|Biallelic|Loss of function|diastrophic dysplasia (DTD)|10928|222600|7923357 ;10482955 ;8571951 ;10466420 ;18925670|HP:0000007 ;HP:0000175 ;HP:0000365 ;HP:0001076 ;HP:0001234 ;HP:0001609 ;HP:0001762 ;HP:0002176 ;HP:0002751 ;HP:0002947 ;HP:0003026 ;HP:0003071 ;HP:0003273 ;HP:0004894 ;HP:0006646 ;HP:0008434 ;HP:0008608 ;HP:0008873 ;HP:0008921 ;HP:0009381 ;HP:0009465 ;HP:0010582 ;HP:0010723
chr5|149340300|149373018|ENSG00000155850.7|ENSG00000155850.7|SLC26A2|SLC26A2|Confirmed DD Gene|Biallelic|Loss of function|achondrogenesis type 1B (ACG1B)|10929|600972|8528239|HP:0000007 ;HP:0000023 ;HP:0000272 ;HP:0000773 ;HP:0000774 ;HP:0000946 ;HP:0000969 ;HP:0001537 ;HP:0001561 ;HP:0001623 ;HP:0001789 ;HP:0002093 ;HP:0002983 ;HP:0003270 ;HP:0003826 ;HP:0004599 ;HP:0008921
chr5|149340300|149373018|ENSG00000155850.7|ENSG00000155850.7|SLC26A2|SLC26A2|Confirmed DD Gene|Biallelic|Loss of function|atelosteogenesis type 2 (AO2)|10930|256050|4644462 ;8571951|HP:0000007 ;HP:0000175 ;HP:0000272 ;HP:0000347 ;HP:0000470 ;HP:0000926 ;HP:0001762 ;HP:0001852 ;HP:0001939 ;HP:0002089 ;HP:0002093 ;HP:0002650 ;HP:0002938 ;HP:0002947 ;HP:0002983 ;HP:0003180 ;HP:0003185 ;HP:0003417 ;HP:0003440 ;HP:0003826 ;HP:0005257 ;HP:0005280 ;HP:0005819 ;HP:0006375
chr5|149340300|149373018|ENSG00000155850.7|ENSG00000155850.7|SLC26A2|SLC26A2|Confirmed DD Gene|Biallelic|All missense/in frame|multiple epiphyseal dysplasia type 4 (EDM4)|10177|226900|12966518|HP:0000007 ;HP:0001156 ;HP:0001385 ;HP:0001762 ;HP:0002650 ;HP:0002654 ;HP:0002656 ;HP:0002829 ;HP:0003370 ;HP:0004322 ;HP:0006376 ;HP:0008802 ;HP:0010049
chr5|149493400|149535435|ENSG00000113721.9|ENSG00000113721.9|PDGFRB|PDGFRB|Confirmed DD Gene|Monoallelic|Activating|Familial Infantile Myofibromatosis|13573|228550|23731542|
chr5|149737202|149779871|ENSG00000070814.13|ENSG00000070814.13|TCOF1|TCOF1|Confirmed DD Gene|Monoallelic|Loss of function|Treacher Collins syndrome type 1 (TCS1)|11126|154500|15214011 ;14598341 ;15039977 ;12114482 ;11013442 ;8563749 ;9096354|HP:0000006 ;HP:0000028 ;HP:0000154 ;HP:0000160 ;HP:0000175 ;HP:0000185 ;HP:0000197 ;HP:0000272 ;HP:0000347 ;HP:0000372 ;HP:0000377 ;HP:0000377 ;HP:0000384 ;HP:0000405 ;HP:0000453 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000572 ;HP:0000636 ;HP:0000652 ;HP:0001249 ;HP:0002564 ;HP:0007633 ;HP:0007678 ;HP:0007776 ;HP:0007776 ;HP:0009554 ;HP:0009555
chr5|149865381|149937773|ENSG00000070614.10|ENSG00000070614.10|NDST1|NDST1|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10032||21937992|
chr5|150591711|150650001|ENSG00000196743.4|ENSG00000196743.4|GM2A|GM2A|Confirmed DD Gene|Biallelic|Loss of function|GM2-gangliosidosis type AB (GM2GAB)|10871|272750|10364519 ;8900233 ;8244332 ;1915858|HP:0000007 ;HP:0000618 ;HP:0000726 ;HP:0000741 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001276 ;HP:0002267 ;HP:0002421 ;HP:0002835 ;HP:0003470 ;HP:0003495
chr5|161274197|161326975|ENSG00000022355.10|ENSG00000022355.10|GABRA1|GABRA1|Probable DD gene|Monoallelic|All missense/in frame|Epileptic encephalopathy|12285||23934111|
chr5|161274197|161326975|ENSG00000022355.10|ENSG00000022355.10|GABRA1|GABRA1|Probable DD gene|Monoallelic|Loss of function|Juvenile myoclonic epilepsy|13606|611136|11992121|
chr5|171752185|171881527|ENSG00000174705.7|ENSG00000174705.7|SH3PXD2B|SH3PXD2B|Confirmed DD Gene|Biallelic|Loss of function|Frank-ter Haar syndrome|10728|249420|20137777 ;15523657 ;7158646|HP:0000270 ;HP:0000293 ;HP:0000316 ;HP:0000347 ;HP:0000501 ;HP:0000520 ;HP:0000689 ;HP:0001090 ;HP:0002564 ;HP:0003015 ;HP:0003026 ;HP:0004611 ;HP:0005731 ;HP:0006487
chr5|172659112|172662360|ENSG00000183072.9|ENSG00000183072.9|NKX2-5|NKX2-5|Confirmed DD Gene|Monoallelic|Loss of function|atrial septal defect with atrioventricular conduction defects (ASD-AVCD)|10461|108900||HP:0000006 ;HP:0001629 ;HP:0001636 ;HP:0001682 ;HP:0001684 ;HP:0001712 ;HP:0004935 ;HP:0005110 ;HP:0012248
chr5|172659112|172662360|ENSG00000183072.9|ENSG00000183072.9|NKX2-5|NKX2-5|Confirmed DD Gene|Monoallelic|Uncertain|tetralogy of Fallot (TOF)|11343|187500||HP:0000006 ;HP:0000337 ;HP:0000520 ;HP:0001636 ;HP:0004209 ;HP:0004467
chr5|172659112|172662360|ENSG00000183072.9|ENSG00000183072.9|NKX2-5|NKX2-5|Confirmed DD Gene|Monoallelic|Uncertain|congenital hypothyroidism non-goitrous type 5 (CHNG5)|11344|225250||HP:0000006 ;HP:0000821 ;HP:0001510 ;HP:0001939 ;HP:0005990 ;HP:0006887 ;HP:0100028
chr5|174151536|174157896|ENSG00000120149.7|ENSG00000120149.7|MSX2|MSX2|Confirmed DD Gene|Monoallelic|All missense/in frame|Craniosynostosis, Type 2|10202|604757||
chr5|174151536|174157896|ENSG00000120149.7|ENSG00000120149.7|MSX2|MSX2|Confirmed DD Gene|Monoallelic|Loss of function|Enlarged Parietal Foramina/Cranium Bifidum|11058|168550|14571277|HP:0000006 ;HP:0000894 ;HP:0002695 ;HP:0002697 ;HP:0004492
chr5|176560026|176727216|ENSG00000165671.14|ENSG00000165671.14|NSD1|NSD1|Confirmed DD Gene|Monoallelic|Loss of function|Sotos syndrome (SOTOSS)|10464|117550|12525543 ;11896389 ;16222665|HP:0000006 ;HP:0000098 ;HP:0000156 ;HP:0000256 ;HP:0000268 ;HP:0000303 ;HP:0000307 ;HP:0000316 ;HP:0000388 ;HP:0000405 ;HP:0000486 ;HP:0000494 ;HP:0000540 ;HP:0000639 ;HP:0000708 ;HP:0001176 ;HP:0001250 ;HP:0001263 ;HP:0001319 ;HP:0001338 ;HP:0001347 ;HP:0001388 ;HP:0001629 ;HP:0001631 ;HP:0001643 ;HP:0001763 ;HP:0001792 ;HP:0001833 ;HP:0001952 ;HP:0002007 ;HP:0002280 ;HP:0002370 ;HP:0002389 ;HP:0002474 ;HP:0002650 ;HP:0002667 ;HP:0002857 ;HP:0003745 ;HP:0005616 ;HP:0006288 ;HP:0009890
chr5|176560026|176727216|ENSG00000165671.14|ENSG00000165671.14|NSD1|NSD1|Confirmed DD Gene|Monoallelic|Loss of function|Weaver syndrome (WES)|10601|277590||HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000034 ;HP:0000256 ;HP:0000278 ;HP:0000286 ;HP:0000303 ;HP:0000311 ;HP:0000316 ;HP:0000343 ;HP:0000400 ;HP:0000486 ;HP:0000494 ;HP:0000708 ;HP:0000750 ;HP:0000773 ;HP:0000945 ;HP:0000973 ;HP:0001176 ;HP:0001212 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001331 ;HP:0001350 ;HP:0001377 ;HP:0001537 ;HP:0001540 ;HP:0001608 ;HP:0001761 ;HP:0001762 ;HP:0001814 ;HP:0001840 ;HP:0001845 ;HP:0001848 ;HP:0002650 ;HP:0002673 ;HP:0002808 ;HP:0002866 ;HP:0003066 ;HP:0003186 ;HP:0004689 ;HP:0005280 ;HP:0005616 ;HP:0006956 ;HP:0008070 ;HP:0009466 ;HP:0009473 ;HP:0010751 ;HP:0011304 ;HP:0200000
chr5|176560026|176727216|ENSG00000165671.14|ENSG00000165671.14|NSD1|NSD1|Confirmed DD Gene|Monoallelic|Uncertain|Beckwith-Wiedemann syndrome (BWS)|11348|130650||HP:0000006 ;HP:0000028 ;HP:0000105 ;HP:0000150 ;HP:0000158 ;HP:0000239 ;HP:0000269 ;HP:0000280 ;HP:0000520 ;HP:0000598 ;HP:0001305 ;HP:0001528 ;HP:0001539 ;HP:0001540 ;HP:0001548 ;HP:0001638 ;HP:0001640 ;HP:0001998 ;HP:0002240 ;HP:0002667 ;HP:0002884 ;HP:0003247 ;HP:0005616 ;HP:0006277 ;HP:0006744 ;HP:0008186
chr5|177027101|177037348|ENSG00000027847.9|ENSG00000027847.9|B4GALT7|B4GALT7|Confirmed DD Gene|Biallelic|Loss of function|Ehlers-Danlos syndrome progeroid type (EDSP)|10338|130070|15211654 ;3631078|HP:0000007 ;HP:0000160 ;HP:0000193 ;HP:0000256 ;HP:0000274 ;HP:0000431 ;HP:0000520 ;HP:0000774 ;HP:0000894 ;HP:0000938 ;HP:0000954 ;HP:0001075 ;HP:0001166 ;HP:0001252 ;HP:0001263 ;HP:0001388 ;HP:0001508 ;HP:0001763 ;HP:0001939 ;HP:0002209 ;HP:0002673 ;HP:0002974 ;HP:0004322 ;HP:0007469 ;HP:0009906 ;HP:0200091
chr5|177419236|177423243|ENSG00000175325.2|ENSG00000175325.2|PROP1|PROP1|Confirmed DD Gene|Biallelic|Loss of function|PROP1-Related Combined Pituitary Hormone Deficiency|12900|262600||HP:0000007 ;HP:0000135 ;HP:0000821 ;HP:0000846 ;HP:0000871 ;HP:0001998 ;HP:0002173 ;HP:0004322 ;HP:0008202
chr5|178405328|178423207|ENSG00000113262.10|ENSG00000113262.10|GRM6|GRM6|Confirmed DD Gene|Biallelic|Loss of function|Night blindness, congenital stationary, type 1B|11152|257270|15781871 ;17405131 ;16249515|HP:0000007 ;HP:0000545 ;HP:0000662 ;HP:0012047
chr5|180028506|180076624|ENSG00000037280.11|ENSG00000037280.11|FLT4|FLT4|Confirmed DD Gene|Monoallelic|All missense/in frame|Milroy Disease|12255|153100|12960217 ;19289394 ;16965327 ;10856194 ;10835628 ;16924388|HP:0000006 ;HP:0000034 ;HP:0001028 ;HP:0001560 ;HP:0001597 ;HP:0001790 ;HP:0003550 ;HP:0003577 ;HP:0003759 ;HP:0007448
chr6|1610681|1614127|ENSG00000054598.5|ENSG00000054598.5|FOXC1|FOXC1|Confirmed DD Gene|Monoallelic|Loss of function|Axenfeld-Rieger syndrome type 3 (RIEG3)|10277|602482|9326342 ;17210863 ;9792859 ;10713890 ;11170889 ;9620769 ;18498376|HP:0000006 ;HP:0000272 ;HP:0000316 ;HP:0000407 ;HP:0000501 ;HP:0000520 ;HP:0000627 ;HP:0000668 ;HP:0000691 ;HP:0001320 ;HP:0001425 ;HP:0001631 ;HP:0001643 ;HP:0007676 ;HP:0009918 ;HP:0011120
chr6|1610681|1614127|ENSG00000054598.5|ENSG00000054598.5|FOXC1|FOXC1|Confirmed DD Gene|Monoallelic|Loss of function|iridogoniodysgenesis anomaly (IGDA)|10308|601631|19793056 ;11007653|HP:0000006 ;HP:0000501 ;HP:0001320 ;HP:0002280 ;HP:0007905 ;HP:0007990
chr6|1610681|1614127|ENSG00000054598.5|ENSG00000054598.5|FOXC1|FOXC1|Confirmed DD Gene|Monoallelic|Loss of function|Peters anomaly (PAN)|10309|604229||HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0001087 ;HP:0007957
chr6|2948393|2972090|ENSG00000124570.13|ENSG00000124570.13|SERPINB6|SERPINB6|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 91|10719|613453|20451170|HP:0000007 ;HP:0001730
chr6|3153903|3157760|ENSG00000137267.5|ENSG00000137267.5|TUBB2A|TUBB2A|Confirmed DD Gene|Monoallelic|All missense/in frame|Cortical dysplasia, complex, with other brain malformations 5	|13736|615763|24702957|
chr6|3224495|3231964|ENSG00000137285.9|ENSG00000137285.9|TUBB2B|TUBB2B|Confirmed DD Gene|Monoallelic|Dominant negative|polymicrogyria asymmetric (PMGA)|10246|610031|22333901 ;19465910|HP:0000006 ;HP:0000007 ;HP:0000252 ;HP:0000478 ;HP:0001249 ;HP:0001250 ;HP:0001250 ;HP:0001269 ;HP:0001270 ;HP:0001274 ;HP:0001302 ;HP:0001321 ;HP:0001328 ;HP:0002307 ;HP:0002319 ;HP:0006927 ;HP:0006930
chr6|10393419|10419892|ENSG00000137203.6|ENSG00000137203.6|TFAP2A|TFAP2A|Confirmed DD Gene|Monoallelic|All missense/in frame|branchiooculofacial syndrome|11686|113620||HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000104 ;HP:0000107 ;HP:0000164 ;HP:0000175 ;HP:0000196 ;HP:0000204 ;HP:0000252 ;HP:0000268 ;HP:0000272 ;HP:0000316 ;HP:0000347 ;HP:0000350 ;HP:0000368 ;HP:0000396 ;HP:0000405 ;HP:0000407 ;HP:0000420 ;HP:0000455 ;HP:0000470 ;HP:0000480 ;HP:0000486 ;HP:0000506 ;HP:0000508 ;HP:0000518 ;HP:0000528 ;HP:0000545 ;HP:0000568 ;HP:0000579 ;HP:0000582 ;HP:0000612 ;HP:0000639 ;HP:0000945 ;HP:0000954 ;HP:0000987 ;HP:0001057 ;HP:0001177 ;HP:0001250 ;HP:0001256 ;HP:0001511 ;HP:0001611 ;HP:0001804 ;HP:0002020 ;HP:0002021 ;HP:0002162 ;HP:0002211 ;HP:0002216 ;HP:0002335 ;HP:0002558 ;HP:0002715 ;HP:0002808 ;HP:0002987 ;HP:0003307 ;HP:0004209 ;HP:0004334 ;HP:0004464 ;HP:0004467 ;HP:0004785 ;HP:0005217 ;HP:0005280 ;HP:0005473 ;HP:0006610 ;HP:0008551 ;HP:0008559 ;HP:0008606 ;HP:0008897 ;HP:0009623 ;HP:0009778 ;HP:0009794 ;HP:0010566
chr6|24495080|24537435|ENSG00000112294.8|ENSG00000112294.8|ALDH5A1|ALDH5A1|Confirmed DD Gene|Biallelic|Loss of function|succinate semialdehyde dehydrogenase deficiency|10943|271980|14635103 ;16542398 ;9683595|HP:0000007 ;HP:0000496 ;HP:0000709 ;HP:0000717 ;HP:0000718 ;HP:0000738 ;HP:0000739 ;HP:0000750 ;HP:0000752 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001265 ;HP:0001270 ;HP:0001939 ;HP:0002069 ;HP:0002121 ;HP:0002123 ;HP:0002133 ;HP:0002353 ;HP:0002487 ;HP:0003593 ;HP:0003812 ;HP:0100716
chr6|26027124|26027480|ENSG00000124529.3|ENSG00000124529.3|HIST1H4B|HIST1H4B|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10022||21937992|
chr6|29640169|29648887|ENSG00000204644.5|ENSG00000204644.5|ZFP57|ZFP57|Confirmed DD Gene|Biallelic|Loss of function|Diabetes Mellitus, 6q24-Related Transient Neonatal|13359|601410|18622393|HP:0001511 ;HP:0001525 ;HP:0001944 ;HP:0003074 ;HP:0008255
chr6|31825436|31830683|ENSG00000204386.6|ENSG00000204386.6|NEU1|NEU1|Confirmed DD Gene|Biallelic|Loss of function|sialidosis (SIALIDOSIS)|10458|256550|8985184 ;11829139 ;10767332 ;10944856 ;14695530 ;11470272 ;9054950 ;11702224|HP:0000007 ;HP:0000023 ;HP:0000093 ;HP:0000280 ;HP:0000282 ;HP:0000407 ;HP:0000518 ;HP:0000529 ;HP:0000639 ;HP:0000943 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001310 ;HP:0001324 ;HP:0001336 ;HP:0001347 ;HP:0001350 ;HP:0001541 ;HP:0001638 ;HP:0001640 ;HP:0001744 ;HP:0001789 ;HP:0001922 ;HP:0002240 ;HP:0003202 ;HP:0003461 ;HP:0004322 ;HP:0004333 ;HP:0010655 ;HP:0010729 ;HP:0012061
chr6|31926857|31937532|ENSG00000204351.7|ENSG00000204351.7|SKIV2L|SKIV2L|Confirmed DD Gene|Biallelic|Loss of function|TRICHOHEPATOENTERIC SYNDROME 2; THES2|13366|615602||
chr6|32808494|32812480|ENSG00000204264.4|ENSG00000204264.4|PSMB8|PSMB8|Confirmed DD Gene|Biallelic|All missense/in frame|Nakajo syndrome|10132|256040|21129723 ;21852578 ;21881205 ;21953331|HP:0000007 ;HP:0000158 ;HP:0000179 ;HP:0000400 ;HP:0000448 ;HP:0000509 ;HP:0000938 ;HP:0000953 ;HP:0001090 ;HP:0001250 ;HP:0001256 ;HP:0001324 ;HP:0001508 ;HP:0001635 ;HP:0001640 ;HP:0001744 ;HP:0001935 ;HP:0002135 ;HP:0002155 ;HP:0002240 ;HP:0002653 ;HP:0002829 ;HP:0002910 ;HP:0002987 ;HP:0003202 ;HP:0003565 ;HP:0004322 ;HP:0008887 ;HP:0009125 ;HP:0010702 ;HP:0010783 ;HP:0011675 ;HP:0100534 ;HP:0100759 ;HP:0100807
chr6|33130458|33160276|ENSG00000204248.6|ENSG00000204248.6|COL11A2|COL11A2|Confirmed DD Gene|Monoallelic|Dominant negative|Stickler syndrome type 3 (STL3)|10260|184840|7833911 ;9506662 ;15372529|HP:0000006 ;HP:0000175 ;HP:0000201 ;HP:0000272 ;HP:0000407 ;HP:0000463 ;HP:0000478 ;HP:0000926 ;HP:0002656 ;HP:0002829 ;HP:0003088 ;HP:0010580
chr6|33130458|33160276|ENSG00000204248.6|ENSG00000204248.6|COL11A2|COL11A2|Confirmed DD Gene|Biallelic|Dominant negative|autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED)|10261|215150|10677296 ;16637051 ;7859284 ;16189708|HP:0000007 ;HP:0000175 ;HP:0000201 ;HP:0000272 ;HP:0000347 ;HP:0000410 ;HP:0000414 ;HP:0000463 ;HP:0000478 ;HP:0001371 ;HP:0002656 ;HP:0002829 ;HP:0002938 ;HP:0003015 ;HP:0003026 ;HP:0003037 ;HP:0003088 ;HP:0003417 ;HP:0003421 ;HP:0004279 ;HP:0004322 ;HP:0004679 ;HP:0005003 ;HP:0006237 ;HP:0006532 ;HP:0009803 ;HP:0010049
chr6|33130458|33160276|ENSG00000204248.6|ENSG00000204248.6|COL11A2|COL11A2|Confirmed DD Gene|Monoallelic|Dominant negative|Weissenbacher-Zweymueller syndrome (WZS)|10262|277610|15558753 ;14234962|HP:0000006 ;HP:0000175 ;HP:0000201 ;HP:0000316 ;HP:0000347 ;HP:0000407 ;HP:0000520 ;HP:0000947 ;HP:0001263 ;HP:0002644 ;HP:0003417 ;HP:0005280 ;HP:0008905 ;HP:0010580
chr6|33130458|33160276|ENSG00000204248.6|ENSG00000204248.6|COL11A2|COL11A2|Confirmed DD Gene|Monoallelic|All missense/in frame|deafness autosomal dominant type 13 (DFNA13)|10168|601868|10581026|HP:0000006 ;HP:0000407
chr6|33130458|33160276|ENSG00000204248.6|ENSG00000204248.6|COL11A2|COL11A2|Confirmed DD Gene|Biallelic|All missense/in frame|deafness autosomal recessive type 53 (DFNB53)|10050|609706|16033917|HP:0000007 ;HP:0000407
chr6|33387847|33421466|ENSG00000197283.8|ENSG00000197283.8|SYNGAP1|SYNGAP1|Confirmed DD Gene|Monoallelic|Loss of function|mental retardation autosomal dominant type 5 (MRD5)|10514|612621|23161826 ;23033978 ;21237447 ;19196676 ;23161826 ;23033978 ;21237447 ;19196676; 23141534|HP:0000006 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001270 ;HP:0002463
chr6|33387847|33421466|ENSG00000197283.8|ENSG00000197283.8|SYNGAP1|SYNGAP1|Confirmed DD Gene|Monoallelic|Loss of function|epileptic encephalopathy|13585||23708187|
chr6|35420138|35434880|ENSG00000112039.3|ENSG00000112039.3|FANCE|FANCE|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia, complementation group E|10654|600901|11001585 ;9382107 ;10205272|HP:0000028 ;HP:0000081 ;HP:0000085 ;HP:0000086 ;HP:0000104 ;HP:0000252 ;HP:0000365 ;HP:0000486 ;HP:0000568 ;HP:0000792 ;HP:0000815 ;HP:0000957 ;HP:0000978 ;HP:0001017 ;HP:0001249 ;HP:0001518 ;HP:0001875 ;HP:0001876 ;HP:0001896 ;HP:0001909 ;HP:0002564 ;HP:0003213 ;HP:0003214 ;HP:0003221 ;HP:0003974 ;HP:0004322 ;HP:0009777 ;HP:0009778 ;HP:0009943
chr6|35773070|35801651|ENSG00000197753.6|ENSG00000197753.6|LHFPL5|LHFPL5|Probable DD gene|Biallelic|Loss of function|deafness autosomal recessive type 67|10990|610265|16752389 ;16459341|HP:0000007 ;HP:0000407
chr6|36210980|36276372|ENSG00000180316.7|ENSG00000180316.7|PNPLA1|PNPLA1|Probable DD gene|Biallelic|All missense/in frame|congenital ichthyosis|10122|||
chr6|39867354|39902290|ENSG00000124615.13|ENSG00000124615.13|MOCS1|MOCS1|Confirmed DD Gene|Biallelic|Loss of function|Molybdenum Cofactor Deficiency|11051|603707||
chr6|42931608|42946958|ENSG00000124587.9|ENSG00000124587.9|PEX6|PEX6|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 4 (PBD-CG4)|10868|601498||
chr6|42931608|42946958|ENSG00000124587.9|ENSG00000124587.9|PEX6|PEX6|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10869|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr6|43005355|43021683|ENSG00000044090.4|ENSG00000044090.4|CUL7|CUL7|Confirmed DD Gene|Biallelic|Loss of function|3-M syndrome 1|10760|273750|19225462 ;16142236 ;17675530|HP:0000007 ;HP:0000047 ;HP:0000179 ;HP:0000268 ;HP:0000272 ;HP:0000303 ;HP:0000307 ;HP:0000325 ;HP:0000343 ;HP:0000463 ;HP:0000470 ;HP:0000574 ;HP:0000767 ;HP:0000773 ;HP:0001382 ;HP:0001511 ;HP:0001518 ;HP:0001763 ;HP:0002007 ;HP:0002643 ;HP:0002750 ;HP:0002827 ;HP:0003100 ;HP:0003298 ;HP:0003307 ;HP:0003691 ;HP:0004209 ;HP:0004322 ;HP:0004570 ;HP:0005280 ;HP:0008734 ;HP:0008839 ;HP:0008897 ;HP:0009237 ;HP:0010306
chr6|43477440|43497323|ENSG00000171453.13|ENSG00000171453.13|POLR1C|POLR1C|Confirmed DD Gene|Biallelic|Loss of function|Treacher Collins syndrome type 3 (TCS3)|11112|248390|21131976|HP:0000007 ;HP:0000175 ;HP:0000272 ;HP:0000347 ;HP:0000356 ;HP:0000494 ;HP:0000652 ;HP:0005321
chr6|45295894|45632086|ENSG00000124813.16|ENSG00000124813.16|RUNX2|RUNX2|Confirmed DD Gene|Monoallelic|Loss of function|cleidocranial dysplasia (CLCD)|10927|119600|9207800 ;12081718 ;12424590 ;9182765 ;10521292 ;15952089 ;10545612|HP:0000006 ;HP:0000175 ;HP:0000242 ;HP:0000272 ;HP:0000316 ;HP:0000347 ;HP:0000365 ;HP:0000680 ;HP:0000684 ;HP:0000696 ;HP:0000773 ;HP:0000774 ;HP:0000882 ;HP:0000891 ;HP:0000894 ;HP:0001156 ;HP:0002007 ;HP:0002098 ;HP:0002645 ;HP:0002650 ;HP:0002659 ;HP:0002684 ;HP:0002688 ;HP:0002689 ;HP:0002700 ;HP:0002738 ;HP:0002808 ;HP:0002812 ;HP:0002866 ;HP:0003183 ;HP:0003302 ;HP:0003304 ;HP:0003396 ;HP:0004474 ;HP:0005259 ;HP:0005280 ;HP:0005819 ;HP:0006040 ;HP:0006297 ;HP:0006660 ;HP:0008788 ;HP:0008848 ;HP:0009080 ;HP:0010230 ;HP:0011001 ;HP:0011069 ;HP:0100864
chr6|49398073|49430904|ENSG00000146085.7|ENSG00000146085.7|MUT|MUT|Confirmed DD Gene|Biallelic|Loss of function|methylmalonic aciduria type mut|10959|251000|11528502 ;16451139 ;2881300 ;1977311 ;1968706 ;7951229 ;7909321 ;1670635 ;17966092 ;16281286|HP:0000007 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001508 ;HP:0001638 ;HP:0001733 ;HP:0001873 ;HP:0001882 ;HP:0001944 ;HP:0001970 ;HP:0001987 ;HP:0002013 ;HP:0002154 ;HP:0002188 ;HP:0002240 ;HP:0002453 ;HP:0002912 ;HP:0003774 ;HP:0005979 ;HP:0011695 ;HP:0012120
chr6|50786436|50815326|ENSG00000008196.8|ENSG00000008196.8|TFAP2B|TFAP2B|Confirmed DD Gene|Monoallelic|All missense/in frame|Char Syndrome|10206|169100|10802654 ;7645594 ;11505339|HP:0000006 ;HP:0000207 ;HP:0000316 ;HP:0000322 ;HP:0000337 ;HP:0000369 ;HP:0000412 ;HP:0000455 ;HP:0000486 ;HP:0000508 ;HP:0000574 ;HP:0001256 ;HP:0001643 ;HP:0002553 ;HP:0004209 ;HP:0009244
chr6|51480098|51952423|ENSG00000170927.10|ENSG00000170927.10|PKHD1|PKHD1|Confirmed DD Gene|Biallelic|Loss of function|Polycystic Kidney Disease, Autosomal Recessive|12845|263200|12506140 ;19021639 ;11919560|HP:0000007 ;HP:0000083 ;HP:0000105 ;HP:0000107 ;HP:0000113 ;HP:0001405 ;HP:0001407 ;HP:0001409 ;HP:0001562 ;HP:0001737 ;HP:0001744 ;HP:0001944 ;HP:0002009 ;HP:0002040 ;HP:0002089 ;HP:0002240 ;HP:0003811 ;HP:0005564 ;HP:0005576
chr6|57053607|57087078|ENSG00000112210.7|ENSG00000112210.7|RAB23|RAB23|Confirmed DD Gene|Biallelic|Loss of function|acrocephalopolysyndactyly type 2|11165|201000|20358613 ;17503333|HP:0000007 ;HP:0000028 ;HP:0000072 ;HP:0000126 ;HP:0000156 ;HP:0000248 ;HP:0000272 ;HP:0000286 ;HP:0000327 ;HP:0000347 ;HP:0000369 ;HP:0000377 ;HP:0000405 ;HP:0000407 ;HP:0000470 ;HP:0000482 ;HP:0000506 ;HP:0000648 ;HP:0000826 ;HP:0000960 ;HP:0001156 ;HP:0001162 ;HP:0001249 ;HP:0001513 ;HP:0001537 ;HP:0001539 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001642 ;HP:0001643 ;HP:0001669 ;HP:0001748 ;HP:0001770 ;HP:0001840 ;HP:0001841 ;HP:0002059 ;HP:0002650 ;HP:0002673 ;HP:0002700 ;HP:0002857 ;HP:0002869 ;HP:0002970 ;HP:0003182 ;HP:0003241 ;HP:0003298 ;HP:0004209 ;HP:0004322 ;HP:0004440 ;HP:0004442 ;HP:0004443 ;HP:0004467 ;HP:0005280 ;HP:0006335 ;HP:0006349 ;HP:0006397 ;HP:0007370 ;HP:0007759 ;HP:0009473 ;HP:0009608 ;HP:0009843 ;HP:0009891 ;HP:0010093 ;HP:0010194 ;HP:0010275
chr6|70385694|70507003|ENSG00000168216.6|ENSG00000168216.6|LMBRD1|LMBRD1|Confirmed DD Gene|Biallelic|Loss of function|methylmalonic aciduria and homocystinuria type cblF|10953|277380|19136951|HP:0000007 ;HP:0000156 ;HP:0000206 ;HP:0000219 ;HP:0000286 ;HP:0000369 ;HP:0000988 ;HP:0001252 ;HP:0001254 ;HP:0001263 ;HP:0001508 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001889 ;HP:0002156 ;HP:0002160 ;HP:0002311 ;HP:0002912 ;HP:0003145 ;HP:0003153 ;HP:0003223 ;HP:0003286 ;HP:0003524 ;HP:0003593 ;HP:0008551 ;HP:0008872 ;HP:0010280 ;HP:0012120 ;HP:0200086
chr6|70924764|71012786|ENSG00000112280.11|ENSG00000112280.11|COL9A1|COL9A1|Confirmed DD Gene|Monoallelic|Dominant negative|multiple epiphyseal dysplasia type 6 (EDM6)|10256|614135|11565064|HP:0000006 ;HP:0001425 ;HP:0002654 ;HP:0002758 ;HP:0002815 ;HP:0002829 ;HP:0003365 ;HP:0005106
chr6|70924764|71012786|ENSG00000112280.11|ENSG00000112280.11|COL9A1|COL9A1|Confirmed DD Gene|Biallelic|Loss of function|Stickler syndrome type 4 (STL4)|10885|614134|16909383|
chr6|74171301|74218959|ENSG00000135297.11|ENSG00000135297.11|MTO1|MTO1|Confirmed DD Gene|Biallelic|Loss of function|Infantile hypertrophic cardiomyopathy and lactic acidosis|13375|614702|22608499|HP:0000007 ;HP:0000648 ;HP:0001518 ;HP:0001639 ;HP:0001942 ;HP:0001943 ;HP:0002151 ;HP:0003128 ;HP:0003577 ;HP:0011675
chr6|74303102|74363878|ENSG00000119899.11|ENSG00000119899.11|SLC17A5|SLC17A5|Confirmed DD Gene|Biallelic|Loss of function|Salla disease (SD)|10500|604369|10947946 ;10581036|HP:0000007 ;HP:0000577 ;HP:0000639 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001510 ;HP:0001922 ;HP:0001939 ;HP:0002305 ;HP:0002540 ;HP:0002684
chr6|74303102|74363878|ENSG00000119899.11|ENSG00000119899.11|SLC17A5|SLC17A5|Confirmed DD Gene|Biallelic|Loss of function|infantile sialic acid storage disorder (ISSD)|10631|269920|10069709 ;10581036|HP:0000007 ;HP:0000100 ;HP:0000156 ;HP:0000212 ;HP:0000238 ;HP:0000280 ;HP:0000286 ;HP:0000463 ;HP:0000508 ;HP:0000639 ;HP:0000765 ;HP:0000938 ;HP:0001010 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001508 ;HP:0001541 ;HP:0001622 ;HP:0001635 ;HP:0001640 ;HP:0001744 ;HP:0001760 ;HP:0001789 ;HP:0001922 ;HP:0002059 ;HP:0002240 ;HP:0002286 ;HP:0002680 ;HP:0002908 ;HP:0003025 ;HP:0003819
chr6|79645584|79787953|ENSG00000146247.13|ENSG00000146247.13|PHIP|PHIP|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13619|||
chr6|80624529|80657297|ENSG00000118402.5|ENSG00000118402.5|ELOVL4|ELOVL4|Both DD and IF|Biallelic|Loss of function|Ichthyosis, spastic quadriplegia, and mental retardation|10748|614457||HP:0000007 ;HP:0000023 ;HP:0000252 ;HP:0000649 ;HP:0000958 ;HP:0000962 ;HP:0001263 ;HP:0001371 ;HP:0001510 ;HP:0002099 ;HP:0002123 ;HP:0002187 ;HP:0002510 ;HP:0003577 ;HP:0008064 ;HP:0010783 ;HP:0011003
chr6|80624529|80657297|ENSG00000118402.5|ENSG00000118402.5|ELOVL4|ELOVL4|Both DD and IF|Monoallelic|Loss of function|Stargardt disease 3|10827|600110||HP:0000006 ;HP:0000007 ;HP:0000505 ;HP:0007754 ;HP:0011507
chr6|80816364|81055987|ENSG00000083123.10|ENSG00000083123.10|BCKDHB|BCKDHB|Confirmed DD Gene|Biallelic|Loss of function|Maple Syrup Urine Disease|11012|248600||HP:0000007 ;HP:0000738 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001276 ;HP:0001507 ;HP:0001733 ;HP:0001943 ;HP:0001946 ;HP:0002013 ;HP:0002181 ;HP:0003128 ;HP:0008344 ;HP:0008872
chr6|83870869|83903655|ENSG00000013375.11|ENSG00000013375.11|PGM3|PGM3|Confirmed DD Gene|Biallelic|Loss of function|Immunodeficiency 23|13715|615816|24931394|
chr6|88180341|88222054|ENSG00000164414.12|ENSG00000164414.12|SLC35A1|SLC35A1|Probable DD gene|Biallelic|Loss of function|Congenital Disorders of Glycosylation|11077|603585|15576474|HP:0000007 ;HP:0001873 ;HP:0001875 ;HP:0002718 ;HP:0003593
chr6|88224096|88299721|ENSG00000146282.13|ENSG00000146282.13|RARS2|RARS2|Confirmed DD Gene|Biallelic|Loss of function|Pontocerebellar Hypoplasia Type 6|11066|318922||
chr6|99316420|99395849|ENSG00000112234.4|ENSG00000112234.4|FBXL4|FBXL4|Confirmed DD Gene|Biallelic|Loss of function|Fatal encephalopathy, lactic acidosis, and severe mtDNA depletion in muscle|13637||23993194 |
chr6|100956070|101329248|ENSG00000112249.9|ENSG00000112249.9|ASCC3|ASCC3|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10003||21937992|
chr6|101846664|102517958|ENSG00000164418.15|ENSG00000164418.15|GRIK2|GRIK2|Confirmed DD Gene|Biallelic|Loss of function|mental retardation autosomal recessive type 6 (MRT6)|10409|611092|17847003|HP:0000007 ;HP:0001249
chr6|107473761|107780768|ENSG00000164494.7|ENSG00000164494.7|PDSS2|PDSS2|Confirmed DD Gene|Biallelic|Loss of function|Coenzyme Q10 deficiency, primary, 3	|12815|614652|17186472; 17186472|HP:0000007 ;HP:0000093 ;HP:0000100 ;HP:0000969 ;HP:0001319 ;HP:0002133 ;HP:0002151 ;HP:0011968 ;HP:0100704
chr6|107811162|107981357|ENSG00000112320.7|ENSG00000112320.7|SOBP|SOBP|Possible DD Gene|Biallelic|Loss of function|mental retardation-anterior maxillary protrusion-strabismus (MRAMS)|10511|613671||HP:0000007 ;HP:0000540 ;HP:0000565 ;HP:0000646 ;HP:0000709 ;HP:0000736 ;HP:0000750 ;HP:0001263 ;HP:0002465 ;HP:0010807 ;HP:0010864
chr6|108532426|108582464|ENSG00000112335.10|ENSG00000112335.10|SNX3|SNX3|Possible DD Gene|Monoallelic|Loss of function|microphthalmia syndromic type 8 (MCOPS8)|10293|601349||HP:0000028 ;HP:0000175 ;HP:0000202 ;HP:0000204 ;HP:0000252 ;HP:0000303 ;HP:0000482 ;HP:0000568 ;HP:0000581 ;HP:0001249 ;HP:0001566 ;HP:0001839 ;HP:0001939 ;HP:0100678
chr6|110012499|110146631|ENSG00000112367.6|ENSG00000112367.6|FIG4|FIG4|Probable DD gene|Biallelic|Loss of function|Charcot-Marie-Tooth disease, type 4J	|12248|611228|17572665; 17572665|HP:0000007 ;HP:0000762 ;HP:0001265 ;HP:0002460 ;HP:0003447 ;HP:0005684 ;HP:0007182
chr6|110012499|110146631|ENSG00000112367.6|ENSG00000112367.6|FIG4|FIG4|Probable DD gene|Biallelic|Loss of function|CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME|13545|216340|7496176 ;2319578; 23623387|HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000213 ;HP:0000216 ;HP:0000239 ;HP:0000252 ;HP:0000268 ;HP:0000316 ;HP:0000322 ;HP:0000347 ;HP:0000369 ;HP:0000385 ;HP:0000463 ;HP:0000464 ;HP:0000518 ;HP:0000535 ;HP:0000582 ;HP:0000647 ;HP:0000653 ;HP:0000782 ;HP:0000894 ;HP:0000954 ;HP:0001182 ;HP:0001274 ;HP:0001511 ;HP:0001525 ;HP:0001561 ;HP:0001622 ;HP:0001629 ;HP:0001636 ;HP:0001638 ;HP:0001770 ;HP:0001789 ;HP:0001831 ;HP:0001871 ;HP:0002021 ;HP:0002092 ;HP:0002139 ;HP:0002209 ;HP:0002561 ;HP:0002692 ;HP:0002827 ;HP:0004331 ;HP:0006323 ;HP:0006628 ;HP:0008362 ;HP:0008386 ;HP:0009381 ;HP:0009777 ;HP:0009835 ;HP:0009843 ;HP:0011309 ;HP:0011309 ;HP:0011344
chr6|116440086|116479910|ENSG00000123500.5|ENSG00000123500.5|COL10A1|COL10A1|Confirmed DD Gene|Monoallelic|Dominant negative|Schmid type metaphyseal chondrodysplasia (SMCD)|10259|156500|12554676 ;7607655 ;9525992 ;8012364 ;10991694 ;17403716 ;9067753 ;7749409 ;8004099 ;8554571 ;9852679 ;8986632 ;8304336 ;9468540|HP:0000006 ;HP:0000926 ;HP:0002515 ;HP:0002812 ;HP:0002970 ;HP:0002980 ;HP:0003301 ;HP:0003371 ;HP:0003502 ;HP:0005819 ;HP:0005871 ;HP:0006028 ;HP:0006208 ;HP:0006414 ;HP:0006431 ;HP:0006634 ;HP:0008833 ;HP:0009844 ;HP:0009882
chr6|117198375|117253326|ENSG00000185002.5|ENSG00000185002.5|RFX6|RFX6|Confirmed DD Gene|Biallelic|Loss of function|Martinez-Frias syndrome|13404|601346|18512226 ;19887127 ;15592663 ;20148032|HP:0000007 ;HP:0000047 ;HP:0001511 ;HP:0001734 ;HP:0002247 ;HP:0002566 ;HP:0002575 ;HP:0002594 ;HP:0005233 ;HP:0005242 ;HP:0005245
chr6|121756838|121770873|ENSG00000152661.7|ENSG00000152661.7|GJA1|GJA1|Confirmed DD Gene|Biallelic|Loss of function|autosomal recessive oculodentodigital dysplasia (ODDD autosomal recessive)|10311|257850|12457340 ;16816024|HP:0000007 ;HP:0000430 ;HP:0000482 ;HP:0000506 ;HP:0000568 ;HP:0000682 ;HP:0005622 ;HP:0005768 ;HP:0005769 ;HP:0006482 ;HP:0007930 ;HP:0010705
chr6|121756838|121770873|ENSG00000152661.7|ENSG00000152661.7|GJA1|GJA1|Confirmed DD Gene|Monoallelic|All missense/in frame|syndactyly type 3 (SDTY3)|11229|186100|2157843|HP:0000006 ;HP:0009162 ;HP:0009237 ;HP:0010705
chr6|121756838|121770873|ENSG00000152661.7|ENSG00000152661.7|GJA1|GJA1|Confirmed DD Gene|Monoallelic|All missense/in frame|hypoplastic left heart syndrome (HLHS)|10110|241550|11470490|HP:0004383
chr6|121756838|121770873|ENSG00000152661.7|ENSG00000152661.7|GJA1|GJA1|Confirmed DD Gene|Biallelic|All missense/in frame|Hallermann-Streiff syndrome (HSS)|10111|234100|14981729|HP:0000028 ;HP:0000156 ;HP:0000160 ;HP:0000213 ;HP:0000232 ;HP:0000242 ;HP:0000248 ;HP:0000252 ;HP:0000268 ;HP:0000272 ;HP:0000347 ;HP:0000369 ;HP:0000430 ;HP:0000460 ;HP:0000486 ;HP:0000494 ;HP:0000518 ;HP:0000535 ;HP:0000568 ;HP:0000588 ;HP:0000592 ;HP:0000611 ;HP:0000612 ;HP:0000639 ;HP:0000653 ;HP:0000689 ;HP:0000695 ;HP:0000752 ;HP:0000767 ;HP:0000883 ;HP:0000958 ;HP:0001009 ;HP:0001155 ;HP:0001249 ;HP:0001266 ;HP:0001382 ;HP:0001518 ;HP:0001547 ;HP:0001592 ;HP:0001739 ;HP:0002007 ;HP:0002069 ;HP:0002092 ;HP:0002205 ;HP:0002213 ;HP:0002414 ;HP:0002645 ;HP:0002650 ;HP:0002691 ;HP:0002779 ;HP:0002870 ;HP:0003016 ;HP:0003100 ;HP:0003307 ;HP:0003508 ;HP:0003745 ;HP:0004334 ;HP:0004782 ;HP:0006532 ;HP:0006611 ;HP:0008070 ;HP:0010539 ;HP:0011069
chr6|121756838|121770873|ENSG00000152661.7|ENSG00000152661.7|GJA1|GJA1|Confirmed DD Gene|Monoallelic|Uncertain|autosomal dominant oculodentodigital dysplasia|11246|164200|21670345 ;4209752 ;16709485 ;15108203 ;12457340 ;2309863 ;15551259 ;7815444 ;17256797|HP:0000006 ;HP:0000175 ;HP:0000187 ;HP:0000204 ;HP:0000252 ;HP:0000286 ;HP:0000405 ;HP:0000430 ;HP:0000446 ;HP:0000482 ;HP:0000501 ;HP:0000518 ;HP:0000568 ;HP:0000581 ;HP:0000670 ;HP:0000679 ;HP:0000691 ;HP:0001249 ;HP:0001251 ;HP:0001257 ;HP:0001260 ;HP:0001592 ;HP:0002135 ;HP:0002217 ;HP:0002273 ;HP:0002385 ;HP:0002500 ;HP:0002827 ;HP:0002967 ;HP:0004220 ;HP:0004495 ;HP:0006297 ;HP:0006480 ;HP:0006801 ;HP:0008070 ;HP:0008442 ;HP:0009183 ;HP:0009779 ;HP:0010705 ;HP:0200079
chr6|129204342|129837714|ENSG00000196569.7|ENSG00000196569.7|LAMA2|LAMA2|Confirmed DD Gene|Biallelic|Loss of function|Congenital Muscular Dystrophy|12596|607855|9158149 ;12601554 ;16216942 ;11591858 ;7550355 ;18700894 ;11071490 ;12552556|HP:0000007 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001270 ;HP:0001284 ;HP:0001371 ;HP:0002536 ;HP:0002747 ;HP:0002751 ;HP:0003236 ;HP:0003560 ;HP:0003577 ;HP:0003741 ;HP:0007103 ;HP:0008872
chr6|131894284|131905472|ENSG00000118520.9|ENSG00000118520.9|ARG1|ARG1|Confirmed DD Gene|Biallelic|Loss of function|argininemia (ARGIN)|10329|207800|10502833 ;1598908 ;2365823 ;1463019 ;7649538|HP:0000007 ;HP:0000737 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001263 ;HP:0001987 ;HP:0002013 ;HP:0002039 ;HP:0002478 ;HP:0003218 ;HP:0008339 ;HP:0008897
chr6|131895106|131949369|ENSG00000112282.13|ENSG00000112282.13|MED23|MED23|Possible DD Gene|Biallelic|All missense/in frame|mental retardation autosomal recessive type 18|10216|614249||
chr6|132129156|132216295|ENSG00000197594.7|ENSG00000197594.7|ENPP1|ENPP1|Confirmed DD Gene|Biallelic|Loss of function|Arterial calcification, generalized, of infancy, 1|10706|208000|15940697 ;19206175 ;22209248 ;15605415 ;12881724 ;11159191; 12881724|HP:0000007 ;HP:0000822 ;HP:0001635 ;HP:0001658 ;HP:0001717 ;HP:0004322 ;HP:0004912 ;HP:0004940
chr6|132129156|132216295|ENSG00000197594.7|ENSG00000197594.7|ENPP1|ENPP1|Confirmed DD Gene|Biallelic|Loss of function|Hypophosphatemic rickets, autosomal recessive, 2	|13662|613312|20137772 ;20137773; 20137772|HP:0000007 ;HP:0004912
chr6|133561736|133853258|ENSG00000112319.13|ENSG00000112319.13|EYA4|EYA4|Confirmed DD Gene|Monoallelic|Loss of function|deafness autosomal dominant type 10|10981|601316|17568404 ;17567890 ;11159937|HP:0000006 ;HP:0000407
chr6|137143717|137235075|ENSG00000112357.8|ENSG00000112357.8|PEX7|PEX7|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 11 (PBD-CG11)|10482|601757||
chr6|137143717|137235075|ENSG00000112357.8|ENSG00000112357.8|PEX7|PEX7|Confirmed DD Gene|Biallelic|Loss of function|rhizomelic chondrodysplasia punctata type 1|10618|215100|12325024 ;9090381 ;10083738|HP:0000007 ;HP:0000175 ;HP:0000252 ;HP:0000272 ;HP:0000347 ;HP:0000407 ;HP:0000519 ;HP:0000582 ;HP:0001249 ;HP:0001250 ;HP:0001257 ;HP:0001371 ;HP:0001525 ;HP:0001596 ;HP:0001939 ;HP:0002007 ;HP:0002093 ;HP:0002120 ;HP:0002188 ;HP:0002751 ;HP:0003015 ;HP:0003417 ;HP:0003510 ;HP:0005280 ;HP:0005841 ;HP:0008064 ;HP:0008905 ;HP:0010655
chr6|137143717|137235075|ENSG00000112357.8|ENSG00000112357.8|PEX7|PEX7|Confirmed DD Gene|Biallelic|Loss of function|Refsum disease (RD)|10619|266500||HP:0000007 ;HP:0000082 ;HP:0000407 ;HP:0000458 ;HP:0000508 ;HP:0000510 ;HP:0000518 ;HP:0000546 ;HP:0000616 ;HP:0000639 ;HP:0000662 ;HP:0001251 ;HP:0001265 ;HP:0001635 ;HP:0001638 ;HP:0001640 ;HP:0001761 ;HP:0001939 ;HP:0002654 ;HP:0002922 ;HP:0003474 ;HP:0003690 ;HP:0004689 ;HP:0007141 ;HP:0008064 ;HP:0011675
chr6|143771944|143811147|ENSG00000034693.10|ENSG00000034693.10|PEX3|PEX3|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 12 (PBD-CG12)|10866|603164||
chr6|143771944|143811147|ENSG00000034693.10|ENSG00000034693.10|PEX3|PEX3|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10867|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr6|146348782|146758734|ENSG00000152822.9|ENSG00000152822.9|GRM1|GRM1|Probable DD gene|Biallelic|Loss of function|Congenital Cerebellar Ataxia|13413|614831|22901947|HP:0000007 ;HP:0000508 ;HP:0000565 ;HP:0000571 ;HP:0000666 ;HP:0001249 ;HP:0001250 ;HP:0001260 ;HP:0001263 ;HP:0001272 ;HP:0001310 ;HP:0001337 ;HP:0001347 ;HP:0001763 ;HP:0002075 ;HP:0002119 ;HP:0003593 ;HP:0003677 ;HP:0004322 ;HP:0006951 ;HP:0007068
chr6|149539777|149732749|ENSG00000055208.13|ENSG00000055208.13|TAB2|TAB2|Possible DD Gene|Monoallelic|All missense/in frame|Congenital heart disease, nonsyndromic, 2 |10127|612863||
chr6|151725989|151773259|ENSG00000155906.12|ENSG00000155906.12|RMND1|RMND1|Possible DD Gene|Biallelic|All missense/in frame|Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect|13461|614922|23022099|HP:0000007 ;HP:0001254 ;HP:0001265 ;HP:0001284 ;HP:0001302 ;HP:0001308 ;HP:0001336 ;HP:0001522 ;HP:0002120 ;HP:0002151 ;HP:0002240 ;HP:0002319 ;HP:0002490 ;HP:0003128 ;HP:0003429 ;HP:0003577 ;HP:0006829 ;HP:0009830 ;HP:0011968
chr6|152442819|152958936|ENSG00000131018.18|ENSG00000131018.18|SYNE1|SYNE1|Both DD and IF|Biallelic|Loss of function|Emery-Dreifuss muscular dystrophy 4, autosomal recessive|10798|612998||HP:0000006 ;HP:0000467 ;HP:0003236 ;HP:0003701 ;HP:0003812 ;HP:0005144 ;HP:0007126 ;HP:0011463
chr6|152442819|152958936|ENSG00000131018.18|ENSG00000131018.18|SYNE1|SYNE1|Both DD and IF|Biallelic|Loss of function|Spinocerebellar ataxia, autosomal recessive 8|10940|610743||
chr6|153071933|153080900|ENSG00000146469.8|ENSG00000146469.8|VIP|VIP|Possible DD Gene|Monoallelic|Loss of function|Asperger|13638||23849776|
chr6|157099063|157531913|ENSG00000049618.17|ENSG00000049618.17|ARID1B|ARID1B|Confirmed DD Gene|Monoallelic|Loss of function|Mental retardation, autosomal dominant 12	|11178|614562|22405089 ;22426309 ;22426308|
chr6|157099063|157531913|ENSG00000049618.17|ENSG00000049618.17|ARID1B|ARID1B|Confirmed DD Gene|Monoallelic|Loss of function|Coffin Siris syndrome|13432|||
chr6|158589384|158620376|ENSG00000272047.1|ENSG00000272047.1|GTF2H5|GTF2H5|Confirmed DD Gene|Biallelic|Loss of function|trichothiodystrophy photosensitive|10520|601675||HP:0000007 ;HP:0000135 ;HP:0000252 ;HP:0000271 ;HP:0000518 ;HP:0000765 ;HP:0000992 ;HP:0001019 ;HP:0001019 ;HP:0001249 ;HP:0001371 ;HP:0001518 ;HP:0001808 ;HP:0002099 ;HP:0002299 ;HP:0002719 ;HP:0004315 ;HP:0004322 ;HP:0005214 ;HP:0007479 ;HP:0007519
chr6|163835032|163999628|ENSG00000112531.12|ENSG00000112531.12|QKI|QKI|Possible DD Gene|Monoallelic|Loss of function|Intellectual disability|13680||20082458|
chr6|167342992|167370679|ENSG00000026297.11|ENSG00000026297.11|RNASET2|RNASET2|Confirmed DD Gene|Biallelic|Loss of function|Leukoencephalopathy, cystic, without megalencephaly|10819|612951|19525954|HP:0000007 ;HP:0000252 ;HP:0000295 ;HP:0000407 ;HP:0000639 ;HP:0000750 ;HP:0001250 ;HP:0001251 ;HP:0001257 ;HP:0001332 ;HP:0002119 ;HP:0002305 ;HP:0002352 ;HP:0002465 ;HP:0002514 ;HP:0003593 ;HP:0003677 ;HP:0007042 ;HP:0011344 ;HP:0011400
chr6|168841831|169073984|ENSG00000112562.14|ENSG00000112562.14|SMOC2|SMOC2|Probable DD gene|Biallelic|Loss of function|Dentin dysplasia, type I, with microdontia and misshapen teeth|10749|125400|22152679|HP:0000006 ;HP:0000007 ;HP:0000679 ;HP:0000691 ;HP:0000700 ;HP:0006350
chr6|170151718|170181680|NA|NA|C6orf70|C6orf70|Possible DD Gene|Monoallelic|Loss of function|Periventricular heterotopia|13678||24056535|
chr7|192969|300711|ENSG00000177706.8|ENSG00000177706.8|FAM20C|FAM20C|Confirmed DD Gene|Biallelic|Loss of function|Raine syndrome|11157|259775|20825432 ;17924334 ;19250384|HP:0000007 ;HP:0000126 ;HP:0000154 ;HP:0000160 ;HP:0000175 ;HP:0000212 ;HP:0000218 ;HP:0000238 ;HP:0000239 ;HP:0000244 ;HP:0000252 ;HP:0000272 ;HP:0000303 ;HP:0000316 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000410 ;HP:0000411 ;HP:0000452 ;HP:0000453 ;HP:0000470 ;HP:0000494 ;HP:0000520 ;HP:0000691 ;HP:0000695 ;HP:0000767 ;HP:0001357 ;HP:0001847 ;HP:0002089 ;HP:0002148 ;HP:0002514 ;HP:0002553 ;HP:0002804 ;HP:0003155 ;HP:0003196 ;HP:0003811 ;HP:0004322 ;HP:0005257 ;HP:0005280 ;HP:0005753 ;HP:0006297 ;HP:0006487 ;HP:0010808 ;HP:0011001
chr7|766338|829190|ENSG00000164818.11|ENSG00000164818.11|HEATR2|HEATR2|Probable DD gene|Biallelic|All missense/in frame|CILIARY DYSKINESIA, PRIMARY, 18; CILD18|13457|614874|23040496; 23040496|HP:0000007 ;HP:0000403 ;HP:0001696 ;HP:0002093 ;HP:0003251 ;HP:0003593 ;HP:0004469 ;HP:0011108 ;HP:0012208 ;HP:0012256 ;HP:0012262 ;HP:0200073
chr7|2552163|2568811|ENSG00000106003.8|ENSG00000106003.8|LFNG|LFNG|Confirmed DD Gene|Biallelic|Uncertain|spondylocostal dysostosis type 3 (SCDO3)|11262|609813|16385447|HP:0000007 ;HP:0001238 ;HP:0002650 ;HP:0003422 ;HP:0004598
chr7|2577511|2595361|ENSG00000106009.11|ENSG00000106009.11|BRAT1|BRAT1|Probable DD gene|Biallelic|Loss of function|Lethal neonatal rigidity and seizure syndrome|13447|614498|22279524; 22279524|HP:0000007 ;HP:0001250 ;HP:0001263 ;HP:0001662 ;HP:0002063 ;HP:0002104 ;HP:0002171 ;HP:0002459 ;HP:0002529 ;HP:0003739
chr7|5566782|5603415|ENSG00000075624.9|ENSG00000075624.9|ACTB|ACTB|Confirmed DD Gene|Monoallelic|All missense/in frame|Baraitser-Winter syndrome|10120|243310|22366783|HP:0000006 ;HP:0000007 ;HP:0000028 ;HP:0000054 ;HP:0000154 ;HP:0000219 ;HP:0000243 ;HP:0000252 ;HP:0000316 ;HP:0000343 ;HP:0000369 ;HP:0000396 ;HP:0000407 ;HP:0000431 ;HP:0000470 ;HP:0000508 ;HP:0000567 ;HP:0000612 ;HP:0001250 ;HP:0001252 ;HP:0001263 ;HP:0001274 ;HP:0001302 ;HP:0001339 ;HP:0001643 ;HP:0001647 ;HP:0001650 ;HP:0001939 ;HP:0002162 ;HP:0003196 ;HP:0004322 ;HP:0007930 ;HP:0008897 ;HP:0200086
chr7|6012870|6048756|ENSG00000122512.10|ENSG00000122512.10|PMS2|PMS2|Confirmed DD Gene|Biallelic|Loss of function|Mismatch repair cancer syndrome|10658|276300||HP:0000007 ;HP:0000957 ;HP:0000997 ;HP:0001438 ;HP:0001909 ;HP:0002665 ;HP:0002671 ;HP:0002859 ;HP:0002885 ;HP:0002888 ;HP:0003006 ;HP:0100843
chr7|16130817|16460947|ENSG00000214960.5|ENSG00000214960.5|ISPD|ISPD|Confirmed DD Gene|Biallelic|Loss of function|Walker Warburg syndrome|11195|614643|7604843 ;9492098 ;22522421 ;23217329 ;22522420; 22522421|HP:0000007 ;HP:0000238 ;HP:0000256 ;HP:0000278 ;HP:0000369 ;HP:0000490 ;HP:0000501 ;HP:0000518 ;HP:0000541 ;HP:0000568 ;HP:0000609 ;HP:0000659 ;HP:0001181 ;HP:0001284 ;HP:0001302 ;HP:0001305 ;HP:0001321 ;HP:0001338 ;HP:0001558 ;HP:0002007 ;HP:0002079 ;HP:0002084 ;HP:0002126 ;HP:0002187 ;HP:0002365 ;HP:0003236 ;HP:0003560 ;HP:0007260 ;HP:0007968 ;HP:0007973 ;HP:0008551
chr7|19060614|19157295|ENSG00000122691.8|ENSG00000122691.8|TWIST1|TWIST1|Confirmed DD Gene|Monoallelic|Loss of function|Craniosynostosis, Type 1|11095|123100|17343269|HP:0000006 ;HP:0000263 ;HP:0000268 ;HP:0001363
chr7|19060614|19157295|ENSG00000122691.8|ENSG00000122691.8|TWIST1|TWIST1|Confirmed DD Gene|Monoallelic|Loss of function|Saethre-Chotzen Syndrome|11096|101400|8988167 ;8988166 ;9259286|HP:0000006 ;HP:0000175 ;HP:0000189 ;HP:0000248 ;HP:0000263 ;HP:0000270 ;HP:0000272 ;HP:0000294 ;HP:0000316 ;HP:0000324 ;HP:0000327 ;HP:0000348 ;HP:0000365 ;HP:0000369 ;HP:0000444 ;HP:0000460 ;HP:0000486 ;HP:0000508 ;HP:0000557 ;HP:0000586 ;HP:0000614 ;HP:0001156 ;HP:0001357 ;HP:0001770 ;HP:0001822 ;HP:0002342 ;HP:0002564 ;HP:0002644 ;HP:0002697 ;HP:0002974 ;HP:0003002 ;HP:0003189 ;HP:0003828 ;HP:0004209 ;HP:0004322 ;HP:0004425 ;HP:0004440 ;HP:0004443 ;HP:0008551 ;HP:0009899 ;HP:0009951 ;HP:0009968 ;HP:0010104 ;HP:0011323
chr7|22980878|23053749|ENSG00000122591.7|ENSG00000122591.7|FAM126A|FAM126A|Confirmed DD Gene|Biallelic|Loss of function|leukodystrophy hypomyelinating type 5 (HLD5)|10281|610532|17928815 ;16951682|HP:0000007 ;HP:0000519 ;HP:0001249 ;HP:0001250 ;HP:0001260 ;HP:0001270 ;HP:0001271 ;HP:0001317 ;HP:0001347 ;HP:0002080 ;HP:0002415 ;HP:0002540 ;HP:0002650 ;HP:0003431 ;HP:0003487 ;HP:0003593 ;HP:0003828 ;HP:0006957 ;HP:0007210 ;HP:0007340 ;HP:0008936
chr7|24737972|24809244|ENSG00000105928.9|ENSG00000105928.9|DFNA5|DFNA5|Probable DD gene|Monoallelic|Loss of function|deafness autosomal dominant type 5|10977|600994|14676472 ;17868390 ;9771715 ;14559215|HP:0000006 ;HP:0000408
chr7|27132612|27135615|ENSG00000105991.7|ENSG00000105991.7|HOXA1|HOXA1|Confirmed DD Gene|Biallelic|Loss of function|Athabaskan brainstem dysgenesis syndrome (ABSD)|10414|601536|18412118 ;16155570|HP:0000407 ;HP:0000496 ;HP:0002194 ;HP:0002363 ;HP:0009145
chr7|27132612|27135615|ENSG00000105991.7|ENSG00000105991.7|HOXA1|HOXA1|Confirmed DD Gene|Biallelic|Loss of function|Bosley-Salih-Alorainy syndrome (BSAS)|10580|601536|18412118 ;16155570|HP:0000407 ;HP:0000496 ;HP:0002194 ;HP:0002363 ;HP:0009145
chr7|30050203|30066300|ENSG00000106080.6|ENSG00000106080.6|FKBP14|FKBP14|Confirmed DD Gene|Biallelic|Loss of function|Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss|10695|||
chr7|33053742|33102409|ENSG00000122643.14|ENSG00000122643.14|NT5C3A|NT5C3A|Confirmed DD Gene|Biallelic|Loss of function|HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY|13579|266120||HP:0000007 ;HP:0001878 ;HP:0003641
chr7|33168856|33645680|ENSG00000122507.16|ENSG00000122507.16|BBS9|BBS9|Confirmed DD Gene|Biallelic|Loss of function|Bardet-Biedl syndrome type 9 (BBS9)|10491|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr7|33944523|34195484|ENSG00000164619.4|ENSG00000164619.4|BMPER|BMPER|Confirmed DD Gene|Biallelic|Loss of function|Diaphanospondylodysostosis|10736|608022|20869035|HP:0000007 ;HP:0000023 ;HP:0000105 ;HP:0000175 ;HP:0000239 ;HP:0000286 ;HP:0000316 ;HP:0000347 ;HP:0000369 ;HP:0000457 ;HP:0000465 ;HP:0000470 ;HP:0000800 ;HP:0000921 ;HP:0001252 ;HP:0001263 ;HP:0001511 ;HP:0001538 ;HP:0001562 ;HP:0001591 ;HP:0001762 ;HP:0001765 ;HP:0001804 ;HP:0002089 ;HP:0002093 ;HP:0002098 ;HP:0002126 ;HP:0002435 ;HP:0002779 ;HP:0003196 ;HP:0003275 ;HP:0003422 ;HP:0003521 ;HP:0005257 ;HP:0005280 ;HP:0006615 ;HP:0008435 ;HP:0008643
chr7|35242042|35293758|ENSG00000164532.10|ENSG00000164532.10|TBX20|TBX20|Confirmed DD Gene|Monoallelic|Loss of function|atrial septal defect type 4 (ASD4)|10518|611363|17668378 ;19762328|HP:0000006 ;HP:0001655 ;HP:0001680
chr7|40165622|40174258|ENSG00000168303.6|ENSG00000168303.6|MPLKIP|MPLKIP|Confirmed DD Gene|Biallelic|Loss of function|trichothiodystrophy non-photosensitive type 1|11168|234050||HP:0000007 ;HP:0001249 ;HP:0002299
chr7|42000548|42277469|ENSG00000106571.8|ENSG00000106571.8|GLI3|GLI3|Confirmed DD Gene|Monoallelic|Loss of function|Greig Cephalopolysyndactyly Syndrome|11040|175700||HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000238 ;HP:0000243 ;HP:0000256 ;HP:0000268 ;HP:0000270 ;HP:0000316 ;HP:0000348 ;HP:0000431 ;HP:0000494 ;HP:0001007 ;HP:0001162 ;HP:0001177 ;HP:0001250 ;HP:0001256 ;HP:0001274 ;HP:0001363 ;HP:0001459 ;HP:0001537 ;HP:0001627 ;HP:0001830 ;HP:0001836 ;HP:0001841 ;HP:0002007 ;HP:0002648 ;HP:0003074 ;HP:0003828 ;HP:0004303 ;HP:0005616 ;HP:0006097 ;HP:0009473 ;HP:0010055 ;HP:0010059 ;HP:0011304 ;HP:0011330
chr7|42000548|42277469|ENSG00000106571.8|ENSG00000106571.8|GLI3|GLI3|Confirmed DD Gene|Monoallelic|Loss of function|PALLISTER-HALL SYNDROME; PHS|11041|146510|9054938 ;10945658 ;10441570|HP:0000006 ;HP:0000054 ;HP:0000086 ;HP:0000089 ;HP:0000107 ;HP:0000110 ;HP:0000171 ;HP:0000204 ;HP:0000358 ;HP:0000413 ;HP:0000463 ;HP:0000568 ;HP:0000695 ;HP:0000824 ;HP:0000826 ;HP:0000835 ;HP:0000871 ;HP:0000902 ;HP:0001162 ;HP:0001250 ;HP:0001360 ;HP:0001511 ;HP:0001629 ;HP:0001643 ;HP:0001770 ;HP:0001830 ;HP:0002023 ;HP:0002101 ;HP:0002164 ;HP:0002444 ;HP:0002827 ;HP:0002937 ;HP:0003048 ;HP:0003196 ;HP:0003811 ;HP:0005151 ;HP:0005280 ;HP:0005349 ;HP:0006042 ;HP:0006159 ;HP:0006402 ;HP:0007601 ;HP:0008188 ;HP:0008220 ;HP:0008551 ;HP:0008706 ;HP:0008734 ;HP:0008751 ;HP:0010044 ;HP:0010112 ;HP:0010564 ;HP:0012165
chr7|42000548|42277469|ENSG00000106571.8|ENSG00000106571.8|GLI3|GLI3|Confirmed DD Gene|Monoallelic|Loss of function|Postaxial Polydactyly Type A|10051|149847||
chr7|42000548|42277469|ENSG00000106571.8|ENSG00000106571.8|GLI3|GLI3|Confirmed DD Gene|Monoallelic|Loss of function|Preaxial Polydactyly Type IV|10052|269157||
chr7|50526134|50633154|ENSG00000132437.13|ENSG00000132437.13|DDC|DDC|Confirmed DD Gene|Biallelic|Loss of function|aromatic L-amino-acid decarboxylase deficiency|10947|608643|20505134|HP:0000007 ;HP:0000271 ;HP:0000508 ;HP:0000616 ;HP:0000712 ;HP:0000737 ;HP:0000975 ;HP:0001263 ;HP:0001266 ;HP:0001336 ;HP:0001347 ;HP:0002014 ;HP:0002019 ;HP:0002020 ;HP:0002360 ;HP:0002451 ;HP:0002509 ;HP:0002615 ;HP:0003487 ;HP:0003593 ;HP:0003785 ;HP:0005964 ;HP:0005968 ;HP:0008872 ;HP:0008936
chr7|56078744|56119297|ENSG00000146733.9|ENSG00000146733.9|PSPH|PSPH|Probable DD gene|Biallelic|All missense/in frame|PHOSPHOSERINE PHOSPHATASE DEFICIENCY|13581|614023|9222972|
chr7|65425671|65447301|ENSG00000169919.12|ENSG00000169919.12|GUSB|GUSB|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 7 (MPS7)|10837|253220|1833732 ;6811712 ;4265197 ;12522561 ;1702266 ;9490302 ;7573038 ;7633414|HP:0000007 ;HP:0000023 ;HP:0000238 ;HP:0000256 ;HP:0000280 ;HP:0000365 ;HP:0000470 ;HP:0000768 ;HP:0000926 ;HP:0000943 ;HP:0001007 ;HP:0001249 ;HP:0001371 ;HP:0001537 ;HP:0001654 ;HP:0001744 ;HP:0001789 ;HP:0001840 ;HP:0002180 ;HP:0002240 ;HP:0002680 ;HP:0003311 ;HP:0003375 ;HP:0003541 ;HP:0004322 ;HP:0004607 ;HP:0005619 ;HP:0006119 ;HP:0007957 ;HP:0008301 ;HP:0008430 ;HP:0008807 ;HP:0008897
chr7|65540785|65558545|ENSG00000126522.12|ENSG00000126522.12|ASL|ASL|Confirmed DD Gene|Biallelic|Loss of function|Argininosuccinate Lyase Deficiency|11843|207900|12408190 ;12384776 ;2263616|HP:0000007 ;HP:0000737 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001254 ;HP:0001259 ;HP:0001263 ;HP:0001395 ;HP:0001508 ;HP:0001950 ;HP:0001951 ;HP:0001987 ;HP:0002013 ;HP:0002038 ;HP:0002181 ;HP:0002240 ;HP:0003217 ;HP:0003355 ;HP:0003623 ;HP:0005961 ;HP:0008872 ;HP:0009886 ;HP:0200080
chr7|66093868|66276446|ENSG00000243335.4|ENSG00000243335.4|KCTD7|KCTD7|Confirmed DD Gene|Biallelic|Loss of function|progressive myoclonic epilepsy type 3 (EPM3)|10426|611726|22693283 ;22748208 ;17455289|HP:0000007 ;HP:0000252 ;HP:0000572 ;HP:0001249 ;HP:0001260 ;HP:0001272 ;HP:0002059 ;HP:0002078 ;HP:0002123 ;HP:0002319 ;HP:0003208 ;HP:0003676
chr7|66093868|66276446|ENSG00000243335.4|ENSG00000243335.4|KCTD7|KCTD7|Confirmed DD Gene|Biallelic|All missense/in frame|Neuronal Ceroid Lipofuscinosis|13396|||
chr7|66452664|66460588|ENSG00000126524.5|ENSG00000126524.5|SBDS|SBDS|Confirmed DD Gene|Biallelic|Loss of function|SHWACHMAN-DIAMOND SYNDROME; SDS|10649|607444||
chr7|69063905|70258054|ENSG00000158321.11|ENSG00000158321.11|AUTS2|AUTS2|Confirmed DD Gene|Monoallelic|Loss of function|Syndromic intellectual disability|13507|612100||
chr7|73442119|73484237|ENSG00000049540.12|ENSG00000049540.12|ELN|ELN|Confirmed DD Gene|Monoallelic|Loss of function|ELN-Related Cutis Laxa|11030|314088||
chr7|73442119|73484237|ENSG00000049540.12|ENSG00000049540.12|ELN|ELN|Confirmed DD Gene|Monoallelic|Loss of function|Supravalvar aortic stenosis	|11031|185500|10190538 ;8132745 ;9215670 ;11175284 ;19844261 ;8541862 ;9215671 ;10190324 ;11735026|HP:0000006 ;HP:0004381 ;HP:0004415 ;HP:0004928
chr7|81328322|81399754|ENSG00000019991.11|ENSG00000019991.11|HGF|HGF|Confirmed DD Gene|Biallelic|Loss of function|deafness autosomal recessive type 39|10988|608265|19576567|HP:0000007 ;HP:0000399
chr7|91828283|91875480|ENSG00000001631.10|ENSG00000001631.10|KRIT1|KRIT1|Possible DD Gene|Monoallelic|Loss of function|cerebral cavernous malformations type 1 (CCM1)|10428|116860||HP:0000006 ;HP:0000951 ;HP:0001250 ;HP:0001425 ;HP:0002170 ;HP:0002315 ;HP:0002514 ;HP:0003011 ;HP:0003829 ;HP:0006576 ;HP:0007797
chr7|92116334|92157845|ENSG00000127980.11|ENSG00000127980.11|PEX1|PEX1|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 1 (PBD-CG1)|10478|602136||
chr7|92116334|92157845|ENSG00000127980.11|ENSG00000127980.11|PEX1|PEX1|Confirmed DD Gene|Biallelic|Loss of function|adrenoleukodystrophy neonatal (NALD)|10609|202370||HP:0000007 ;HP:0000218 ;HP:0000268 ;HP:0000286 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000565 ;HP:0000846 ;HP:0001249 ;HP:0001250 ;HP:0001999 ;HP:0002007 ;HP:0003455 ;HP:0010696
chr7|92116334|92157845|ENSG00000127980.11|ENSG00000127980.11|PEX1|PEX1|Confirmed DD Gene|Biallelic|Loss of function|infantile Refsum disease (IRD)|10610|266510||HP:0000007 ;HP:0000272 ;HP:0000407 ;HP:0000457 ;HP:0000510 ;HP:0000512 ;HP:0000556 ;HP:0000939 ;HP:0000954 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001265 ;HP:0001271 ;HP:0001508 ;HP:0001892 ;HP:0001999 ;HP:0002240 ;HP:0002570 ;HP:0003146 ;HP:0003577 ;HP:0008167
chr7|96649704|96654409|ENSG00000105880.4|ENSG00000105880.4|DLX5|DLX5|Possible DD Gene|Biallelic|All missense/in frame|Split Hand and Foot Malformation|13446|220600|22121204|HP:0000007 ;HP:0000407 ;HP:0001171 ;HP:0001182 ;HP:0001597 ;HP:0001839 ;HP:0002650 ;HP:0003510
chr7|99699172|99707968|ENSG00000221838.5|ENSG00000221838.5|AP4M1|AP4M1|Possible DD Gene|Biallelic|Loss of function|cerebral palsy spastic quadriplegic type 3 (CPSQ3)|10328|612936||HP:0000007 ;HP:0000252 ;HP:0000303 ;HP:0000486 ;HP:0001181 ;HP:0001272 ;HP:0001319 ;HP:0001347 ;HP:0001762 ;HP:0002119 ;HP:0002171 ;HP:0002200 ;HP:0002307 ;HP:0002510 ;HP:0003487 ;HP:0003577 ;HP:0006887 ;HP:0010864
chr7|100849258|100861701|ENSG00000106397.7|ENSG00000106397.7|PLOD3|PLOD3|Possible DD Gene|Biallelic|Loss of function|lysyl hydroxylase 3 deficiency|11516|612394|18834968|HP:0000007 ;HP:0000272 ;HP:0000343 ;HP:0000365 ;HP:0000369 ;HP:0000377 ;HP:0000463 ;HP:0000518 ;HP:0000545 ;HP:0000586 ;HP:0000926 ;HP:0000938 ;HP:0000978 ;HP:0001263 ;HP:0001511 ;HP:0001762 ;HP:0002164 ;HP:0002208 ;HP:0002650 ;HP:0002680 ;HP:0002714 ;HP:0002756 ;HP:0002987 ;HP:0003090 ;HP:0003196 ;HP:0003393 ;HP:0004944 ;HP:0006184 ;HP:0008897 ;HP:0009110
chr7|103112231|103629963|ENSG00000189056.9|ENSG00000189056.9|RELN|RELN|Confirmed DD Gene|Biallelic|Loss of function|Lissencephaly 2|11067|319306||
chr7|106842000|107204959|ENSG00000164597.9|ENSG00000164597.9|COG5|COG5|Probable DD gene|Biallelic|Loss of function|COG5-CDG (CDG-IIi)|11019|319494||
chr7|107531415|107572175|ENSG00000091140.8|ENSG00000091140.8|DLD|DLD|Confirmed DD Gene|Biallelic|Loss of function|Dihydrolipoamide Dehydrogenase (E3) Deficiency|11025|248600||HP:0000007 ;HP:0000738 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001276 ;HP:0001507 ;HP:0001733 ;HP:0001943 ;HP:0001946 ;HP:0002013 ;HP:0002181 ;HP:0003128 ;HP:0008344 ;HP:0008872
chr7|107531415|107572175|ENSG00000091140.8|ENSG00000091140.8|DLD|DLD|Confirmed DD Gene|Biallelic|Loss of function|Leigh Syndrome (nuclear DNA mutation)|11026|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr7|113726382|114333827|ENSG00000128573.18|ENSG00000128573.18|FOXP2|FOXP2|Probable DD gene|Monoallelic|Loss of function|Speech-Language Disorder 1|12266|602081|2332125 ;15877281|HP:0000006 ;HP:0000271 ;HP:0000750 ;HP:0002134 ;HP:0002546 ;HP:0007301
chr7|116164839|116201233|ENSG00000105974.7|ENSG00000105974.7|CAV1|CAV1|Possible DD Gene|Biallelic|Loss of function|congenital generalized lipodystrophy type 3|11155|612526||HP:0000007 ;HP:0000819 ;HP:0000855 ;HP:0000956 ;HP:0001007 ;HP:0001397 ;HP:0001433 ;HP:0002155 ;HP:0002901 ;HP:0003124 ;HP:0003758 ;HP:0004322
chr7|121715701|121784334|ENSG00000008311.10|ENSG00000008311.10|AASS|AASS|Probable DD gene|Biallelic|Loss of function|Hyperlysinemia|11710|238700|934735; 10775527|HP:0000007 ;HP:0000119 ;HP:0001083 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001903 ;HP:0002161
chr7|127937738|127983962|ENSG00000106344.4|ENSG00000106344.4|RBM28|RBM28|Possible DD Gene|Biallelic|Uncertain|alopecia neurologic defects and endocrinopathy syndrome (ANES)|11274|612079|18439547|HP:0000007 ;HP:0000135 ;HP:0000252 ;HP:0000668 ;HP:0000670 ;HP:0000771 ;HP:0000823 ;HP:0000953 ;HP:0000995 ;HP:0001002 ;HP:0001193 ;HP:0001249 ;HP:0001371 ;HP:0001596 ;HP:0002333 ;HP:0002751 ;HP:0003202 ;HP:0011734
chr7|129414532|129414609|ENSG00000199158.1|ENSG00000199158.1|MIR96|MIR96|Both DD and IF|Monoallelic|Uncertain|Deafness, autosomal dominant 50|11371|613074||HP:0000006 ;HP:0000407 ;HP:0001730
chr7|130033612|130082274|ENSG00000106477.14|ENSG00000106477.14|CEP41|CEP41|Confirmed DD Gene|Biallelic|Loss of function|Joubert syndrome 15|10674|614464|22246503|HP:0000007 ;HP:0000054 ;HP:0000062 ;HP:0000090 ;HP:0000488 ;HP:0000657 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0010442
chr7|139476850|139720125|ENSG00000059377.11|ENSG00000059377.11|TBXAS1|TBXAS1|Confirmed DD Gene|Biallelic|All missense/in frame|Ghosal hematodiaphyseal syndrome |11470|231095||HP:0000007 ;HP:0001873 ;HP:0001882 ;HP:0003812 ;HP:0005505 ;HP:0005528 ;HP:0005890 ;HP:0005890 ;HP:0011001 ;HP:0011974 ;HP:0100252
chr7|140419127|140624564|ENSG00000157764.8|ENSG00000157764.8|BRAF|BRAF|Confirmed DD Gene|Monoallelic|Activating|cardiofaciocutaneous syndrome (CFC syndrome)|10059|115150|16372351 ;16474404 ;18042262|HP:0000006 ;HP:0000126 ;HP:0000156 ;HP:0000164 ;HP:0000176 ;HP:0000238 ;HP:0000268 ;HP:0000280 ;HP:0000286 ;HP:0000316 ;HP:0000341 ;HP:0000347 ;HP:0000358 ;HP:0000365 ;HP:0000414 ;HP:0000463 ;HP:0000486 ;HP:0000494 ;HP:0000508 ;HP:0000520 ;HP:0000529 ;HP:0000545 ;HP:0000561 ;HP:0000639 ;HP:0000657 ;HP:0000767 ;HP:0000768 ;HP:0000938 ;HP:0000962 ;HP:0001003 ;HP:0001047 ;HP:0001048 ;HP:0001093 ;HP:0001187 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001276 ;HP:0001508 ;HP:0001561 ;HP:0001622 ;HP:0001631 ;HP:0001639 ;HP:0001642 ;HP:0001744 ;HP:0002002 ;HP:0002013 ;HP:0002019 ;HP:0002020 ;HP:0002120 ;HP:0002212 ;HP:0002217 ;HP:0002223 ;HP:0002750 ;HP:0003196 ;HP:0003477 ;HP:0003577 ;HP:0004209 ;HP:0004322 ;HP:0004482 ;HP:0005280 ;HP:0006114 ;HP:0007333 ;HP:0007370 ;HP:0008064 ;HP:0008070 ;HP:0008113 ;HP:0008872 ;HP:0009891 ;HP:0009908 ;HP:0011220
chr7|140419127|140624564|ENSG00000157764.8|ENSG00000157764.8|BRAF|BRAF|Confirmed DD Gene|Monoallelic|Activating|Noonan syndrome type 7 (NS7)|10067|613706|19206169|HP:0000006 ;HP:0000268 ;HP:0000316 ;HP:0000369 ;HP:0000391 ;HP:0000953 ;HP:0001249 ;HP:0001252 ;HP:0001631 ;HP:0001642 ;HP:0004322 ;HP:0008872 ;HP:0011220
chr7|140419127|140624564|ENSG00000157764.8|ENSG00000157764.8|BRAF|BRAF|Confirmed DD Gene|Monoallelic|Activating|LEOPARD syndrome type 3 (LEOPARD3)|10068|613707||HP:0000006 ;HP:0000407 ;HP:0000465 ;HP:0000470 ;HP:0000962 ;HP:0001003 ;HP:0001054 ;HP:0001249 ;HP:0001250 ;HP:0001319 ;HP:0001510 ;HP:0001633 ;HP:0001646 ;HP:0007565
chr7|141250989|141355044|ENSG00000006530.11|ENSG00000006530.11|AGK|AGK|Confirmed DD Gene|Biallelic|Loss of function|Sengers syndrome|10700|212350|22277967 ;3560758 ;22284826 ;15168109|HP:0000007 ;HP:0000486 ;HP:0000501 ;HP:0000519 ;HP:0000545 ;HP:0000639 ;HP:0001252 ;HP:0001270 ;HP:0001324 ;HP:0001510 ;HP:0001639 ;HP:0001873 ;HP:0002093 ;HP:0002151 ;HP:0003198 ;HP:0003388 ;HP:0003535 ;HP:0003546 ;HP:0003593 ;HP:0003737 ;HP:0003828 ;HP:0004901
chr7|142985308|143004789|ENSG00000106144.15|ENSG00000106144.15|CASP2|CASP2|Possible DD Gene|Biallelic|Loss of function|Autosomal Recessive Mental Retardation|10011||21937992|
chr7|145813453|148118090|ENSG00000174469.13|ENSG00000174469.13|CNTNAP2|CNTNAP2|Confirmed DD Gene|Biallelic|Loss of function|cortical dysplasia-focal epilepsy syndrome (CDFES)|10360|610042|11568923 ;16571880 ;19896112|HP:0000735 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001315 ;HP:0002194 ;HP:0007064
chr7|145813453|148118090|ENSG00000174469.13|ENSG00000174469.13|CNTNAP2|CNTNAP2|Confirmed DD Gene|Uncertain|Uncertain|susceptibility to autism type 15 (AUTS15)|11299|612100|18179893 ;18179894 ;18179895|
chr7|148504475|148581413|ENSG00000106462.6|ENSG00000106462.6|EZH2|EZH2|Confirmed DD Gene|Monoallelic|All missense/in frame|Weaver syndrome 2|10126|614421||HP:0000006 ;HP:0000256 ;HP:0000278 ;HP:0000306 ;HP:0000316 ;HP:0000343 ;HP:0000400 ;HP:0000494 ;HP:0000973 ;HP:0001256 ;HP:0001537 ;HP:0001548 ;HP:0001814 ;HP:0002650 ;HP:0005469 ;HP:0007481 ;HP:0011298 ;HP:0011304
chr7|155592680|155604967|ENSG00000164690.3|ENSG00000164690.3|SHH|SHH|Confirmed DD Gene|Monoallelic|Uncertain|microphthalmia isolated with coloboma type 5|11384|611638|12503095|HP:0000006 ;HP:0000202 ;HP:0000504 ;HP:0000528 ;HP:0000568 ;HP:0001360 ;HP:0003828 ;HP:0003829 ;HP:0007633 ;HP:0007748
chr7|155592680|155604967|ENSG00000164690.3|ENSG00000164690.3|SHH|SHH|Confirmed DD Gene|Monoallelic|Loss of function|holoprosencephaly type 3 (HPE3)|11144|236100||HP:0000007 ;HP:0000054 ;HP:0000601 ;HP:0000835 ;HP:0001250 ;HP:0001943 ;HP:0002006 ;HP:0006988 ;HP:0008501 ;HP:0009914
chr7|155592680|155604967|ENSG00000164690.3|ENSG00000164690.3|SHH|SHH|Confirmed DD Gene|Monoallelic|Loss of function|solitary median maxillary central incisor (SMMCI)|11145|147250|15103725 ;12567406 ;11471164|HP:0000006 ;HP:0000204 ;HP:0000252 ;HP:0000252 ;HP:0000453 ;HP:0000458 ;HP:0000528 ;HP:0000568 ;HP:0000589 ;HP:0000601 ;HP:0000824 ;HP:0001256 ;HP:0001328 ;HP:0001360 ;HP:0001739 ;HP:0002708 ;HP:0002916 ;HP:0003828 ;HP:0004322 ;HP:0006315 ;HP:0009914 ;HP:0010644
chr7|155592680|155604967|ENSG00000164690.3|ENSG00000164690.3|SHH|SHH|Confirmed DD Gene|Monoallelic|Cis-regulatory or promotor mutation|triphalangeal thumb-polysyndactyly syndrome (TPTPS)|10229|174500||HP:0000006 ;HP:0001159 ;HP:0001162 ;HP:0001177 ;HP:0001830 ;HP:0001841 ;HP:0005866 ;HP:0009606 ;HP:0009942 ;HP:0010066
chr7|156786745|156803345|ENSG00000130675.10|ENSG00000130675.10|MNX1|MNX1|Confirmed DD Gene|Monoallelic|Loss of function|Currarino syndrome (CURRAS)|10452|176450|10631160 ;7550324 ;9843207 ;15216552 ;16906559|HP:0000006 ;HP:0000010 ;HP:0000011 ;HP:0000020 ;HP:0000076 ;HP:0000085 ;HP:0000143 ;HP:0000813 ;HP:0001153 ;HP:0001263 ;HP:0001287 ;HP:0002019 ;HP:0002023 ;HP:0002025 ;HP:0002144 ;HP:0003270 ;HP:0003829 ;HP:0004796 ;HP:0007293 ;HP:0009789 ;HP:0009790 ;HP:0009791 ;HP:0009793 ;HP:0009793 ;HP:0010447
chr7|158649269|158749438|ENSG00000126870.11|ENSG00000126870.11|WDR60|WDR60|Confirmed DD Gene|Biallelic|Loss of function|Short-Rib Polydactyly |13633||23910462|
chr7|158649269|158749438|ENSG00000126870.11|ENSG00000126870.11|WDR60|WDR60|Confirmed DD Gene|Biallelic|Loss of function|Jeune Syndromes|13634||23910462|
chr8|356428|421225|ENSG00000147364.12|ENSG00000147364.12|FBXO25|FBXO25|Possible DD Gene|Monoallelic|Uncertain|F-BOX ONLY PROTEIN 25; FBXO25|11251|609098||
chr8|1703944|1734738|ENSG00000182372.6|ENSG00000182372.6|CLN8|CLN8|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 8 (CLN8)|10359|600143|16570191 ;19431184|HP:0000007 ;HP:0000529 ;HP:0000750 ;HP:0001250 ;HP:0001251 ;HP:0001272 ;HP:0001336 ;HP:0002059 ;HP:0002074 ;HP:0002353 ;HP:0002376 ;HP:0003205
chr8|1703944|1734738|ENSG00000182372.6|ENSG00000182372.6|CLN8|CLN8|Confirmed DD Gene|Biallelic|Loss of function|neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE)|10554|610003|10508524|HP:0000007 ;HP:0000711 ;HP:0000737 ;HP:0001249 ;HP:0001268 ;HP:0001272 ;HP:0002059 ;HP:0002069 ;HP:0002074 ;HP:0002312 ;HP:0002353 ;HP:0002384 ;HP:0003205 ;HP:0003677
chr8|6264113|6501144|ENSG00000147316.8|ENSG00000147316.8|MCPH1|MCPH1|Confirmed DD Gene|Biallelic|Loss of function|microcephaly primary type 1 (MCPH1)|10441|251200|20978018 ;16311745 ;12046007 ;11857108 ;7693575|HP:0000007 ;HP:0000252 ;HP:0001249 ;HP:0001250 ;HP:0001425 ;HP:0002472 ;HP:0003451 ;HP:0004322
chr8|11534468|11617511|ENSG00000136574.13|ENSG00000136574.13|GATA4|GATA4|Confirmed DD Gene|Monoallelic|Loss of function|atrial septal defect type 2 (ASD2)|10401|607941|20347099 ;20659440 ;12845333 ;15810002 ;17643447 ;18055909|HP:0000006 ;HP:0001629 ;HP:0001631 ;HP:0006695
chr8|15274724|15624158|ENSG00000104723.16|ENSG00000104723.16|TUSC3|TUSC3|Confirmed DD Gene|Biallelic|Loss of function|mental retardation autosomal recessive type 7 (MRT7)|10527|611093|21739581 ;18455129|HP:0000007 ;HP:0001249
chr8|17913934|17942494|ENSG00000104763.13|ENSG00000104763.13|ASAH1|ASAH1|Confirmed DD Gene|Biallelic|All missense/in frame|Farber Lipogranulomatosis|11842|228000|11241842 ;16951918 ;8955159 ;10610716|HP:0000007 ;HP:0000112 ;HP:0000737 ;HP:0001249 ;HP:0001270 ;HP:0001386 ;HP:0001508 ;HP:0001615 ;HP:0001744 ;HP:0002093 ;HP:0002240 ;HP:0007470 ;HP:0010729
chr8|17913934|17942494|ENSG00000104763.13|ENSG00000104763.13|ASAH1|ASAH1|Confirmed DD Gene|Biallelic|Loss of function|Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy|13387|159950|22703880|HP:0000006 ;HP:0000007 ;HP:0000726 ;HP:0001284 ;HP:0001308 ;HP:0001336 ;HP:0001337 ;HP:0002123 ;HP:0002205 ;HP:0002355 ;HP:0002359 ;HP:0002398 ;HP:0002650 ;HP:0002747 ;HP:0003391 ;HP:0003621 ;HP:0003676 ;HP:0007269 ;HP:0008955 ;HP:0010628
chr8|21971928|21990897|ENSG00000168453.10|ENSG00000168453.10|HR|HR|Confirmed DD Gene|Biallelic|All missense/in frame|Alopecia Universalis|12445|146550|19897589 ;17680008 ;10777357|HP:0000006 ;HP:0000535 ;HP:0000653 ;HP:0001006 ;HP:0001596 ;HP:0002231 ;HP:0003777
chr8|21971928|21990897|ENSG00000168453.10|ENSG00000168453.10|HR|HR|Confirmed DD Gene|Biallelic|Loss of function|Atrichia with Papular Lesions|12446|209500|10469319 ;10051399 ;12271294 ;10205263 ;9856480|HP:0000007 ;HP:0001006 ;HP:0007482
chr8|27629466|27670157|ENSG00000171320.10|ENSG00000171320.10|ESCO2|ESCO2|Confirmed DD Gene|Biallelic|Loss of function|Roberts syndrome (RBS)|10383|268300|495649 ;15821733|HP:0000007 ;HP:0000028 ;HP:0000040 ;HP:0000047 ;HP:0000057 ;HP:0000085 ;HP:0000113 ;HP:0000156 ;HP:0000175 ;HP:0000204 ;HP:0000238 ;HP:0000248 ;HP:0000252 ;HP:0000272 ;HP:0000316 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000387 ;HP:0000430 ;HP:0000431 ;HP:0000470 ;HP:0000476 ;HP:0000494 ;HP:0000518 ;HP:0000520 ;HP:0000568 ;HP:0000586 ;HP:0000592 ;HP:0000625 ;HP:0000813 ;HP:0000957 ;HP:0001080 ;HP:0001159 ;HP:0001163 ;HP:0001180 ;HP:0001239 ;HP:0001249 ;HP:0001363 ;HP:0001561 ;HP:0001629 ;HP:0001631 ;HP:0001643 ;HP:0001747 ;HP:0001772 ;HP:0002987 ;HP:0003616 ;HP:0003826 ;HP:0006380 ;HP:0006466 ;HP:0006824 ;HP:0007330 ;HP:0007452 ;HP:0007759 ;HP:0008070 ;HP:0008683 ;HP:0008846 ;HP:0008897 ;HP:0009466 ;HP:0009829 ;HP:0009933
chr8|27629466|27670157|ENSG00000171320.10|ENSG00000171320.10|ESCO2|ESCO2|Confirmed DD Gene|Biallelic|Loss of function|SC phocomelia syndrome (SCPS)|10566|269000|3740099|HP:0000007 ;HP:0000204 ;HP:0000252 ;HP:0000347 ;HP:0000358 ;HP:0000430 ;HP:0000592 ;HP:0001250 ;HP:0001263 ;HP:0001511 ;HP:0001650 ;HP:0002286 ;HP:0002645 ;HP:0003273 ;HP:0003616 ;HP:0003974 ;HP:0003982 ;HP:0004322 ;HP:0006380 ;HP:0007452 ;HP:0008070 ;HP:0009466 ;HP:0009778
chr8|33330904|33371119|ENSG00000129696.8|ENSG00000129696.8|TTI2|TTI2|Probable DD gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10007||21937992|
chr8|37594117|37616619|ENSG00000147475.10|ENSG00000147475.10|ERLIN2|ERLIN2|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10018||21937992|
chr8|38001167|38008783|ENSG00000147465.7|ENSG00000147465.7|STAR|STAR|Confirmed DD Gene|Biallelic|Loss of function|Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia|13187|201710|16968793 ;9141542 ;8948562 ;15546900 ;14764819 ;10566637 ;10323391 ;7892608 ;8634702|HP:0000007 ;HP:0000047 ;HP:0000127 ;HP:0000840
chr8|38082736|38133076|ENSG00000085788.9|ENSG00000085788.9|DDHD2|DDHD2|Confirmed DD Gene|Biallelic|Loss of function|Complex Hereditary Spastic Paraplegia|13485|615033|23176823; 23176823|
chr8|38268656|38326352|ENSG00000077782.15|ENSG00000077782.15|FGFR1|FGFR1|Confirmed DD Gene|Monoallelic|Activating|Pfeiffer syndrome (PS)|10056|101600|7874169 ;8434615 ;10394936 ;9586546 ;9002682 ;10945669 ;7719345 ;9150725 ;11807866 ;15523615 ;8841188; 7874169|HP:0000006 ;HP:0000156 ;HP:0000238 ;HP:0000244 ;HP:0000303 ;HP:0000316 ;HP:0000327 ;HP:0000452 ;HP:0000453 ;HP:0000486 ;HP:0000494 ;HP:0000586 ;HP:0000678 ;HP:0001159 ;HP:0001249 ;HP:0002308 ;HP:0002676 ;HP:0002780 ;HP:0003041 ;HP:0003070 ;HP:0003196 ;HP:0003795 ;HP:0004440 ;HP:0005280 ;HP:0005347 ;HP:0006110 ;HP:0010055 ;HP:0011304
chr8|38268656|38326352|ENSG00000077782.15|ENSG00000077782.15|FGFR1|FGFR1|Confirmed DD Gene|Monoallelic|Loss of function|Idiopathic hypogonadotropic hypogonadism (IHH)|10301|146110|12627230|HP:0000006 ;HP:0000044 ;HP:0000786 ;HP:0008734
chr8|38268656|38326352|ENSG00000077782.15|ENSG00000077782.15|FGFR1|FGFR1|Confirmed DD Gene|Monoallelic|Loss of function|Kallmann syndrome type 2 (KAL2)|10302|147950|12627230 ;18596921 ;23643382 ;16606836 ;17235395 ;17360555 ;16418210 ;10690855 ;16882753; 12627230|HP:0000006 ;HP:0000028 ;HP:0000044 ;HP:0000407 ;HP:0000453 ;HP:0000458 ;HP:0001249 ;HP:0001425 ;HP:0002564 ;HP:0004322
chr8|38268656|38326352|ENSG00000077782.15|ENSG00000077782.15|FGFR1|FGFR1|Confirmed DD Gene|Monoallelic|Activating|Osteoglophonic dysplasia (OGD)|10057|166250|7422392 ;15625620; 15625620|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000041 ;HP:0000047 ;HP:0000156 ;HP:0000272 ;HP:0000303 ;HP:0000316 ;HP:0000343 ;HP:0000369 ;HP:0000463 ;HP:0000470 ;HP:0000494 ;HP:0000586 ;HP:0000706 ;HP:0000750 ;HP:0000882 ;HP:0000926 ;HP:0001169 ;HP:0001230 ;HP:0001363 ;HP:0001508 ;HP:0001739 ;HP:0001742 ;HP:0001773 ;HP:0001783 ;HP:0001800 ;HP:0002007 ;HP:0002098 ;HP:0002659 ;HP:0002676 ;HP:0003196 ;HP:0004279 ;HP:0005280 ;HP:0005864 ;HP:0006009 ;HP:0006487 ;HP:0008905 ;HP:0009803 ;HP:0009826 ;HP:0010049 ;HP:0010743
chr8|42691817|42698468|ENSG00000131931.4|ENSG00000131931.4|THAP1|THAP1|Both DD and IF|Monoallelic|Loss of function|Dystonia 6, torsion|10817|602629||HP:0000006 ;HP:0000234 ;HP:0000473 ;HP:0001260 ;HP:0001304 ;HP:0001336 ;HP:0002356 ;HP:0002451 ;HP:0003829 ;HP:0012048 ;HP:0012049
chr8|42995556|43057998|ENSG00000165102.10|ENSG00000165102.10|HGSNAT|HGSNAT|Confirmed DD Gene|Biallelic|Loss of function|mucopolysaccharidosis type 3C (MPS3C)|10856|252930|20825431 ;18518886 ;16960811 ;17033958 ;18024218|HP:0000007 ;HP:0000232 ;HP:0000250 ;HP:0000268 ;HP:0000280 ;HP:0000365 ;HP:0000510 ;HP:0000664 ;HP:0000752 ;HP:0000900 ;HP:0000943 ;HP:0001007 ;HP:0001249 ;HP:0001250 ;HP:0001270 ;HP:0001387 ;HP:0001507 ;HP:0001670 ;HP:0001744 ;HP:0002014 ;HP:0002015 ;HP:0002159 ;HP:0002208 ;HP:0002240 ;HP:0002333 ;HP:0002360 ;HP:0002371 ;HP:0002751 ;HP:0002788 ;HP:0003309 ;HP:0003653 ;HP:0003828 ;HP:0100790
chr8|55370495|55373448|ENSG00000164736.5|ENSG00000164736.5|SOX17|SOX17|Confirmed DD Gene|Monoallelic|All missense/in frame|vesicoureteral reflux type 3|10218|613674|20960469|HP:0000006 ;HP:0000072 ;HP:0000076 ;HP:0000126 ;HP:0001561
chr8|57870492|57906403|ENSG00000104331.4|ENSG00000104331.4|IMPAD1|IMPAD1|Confirmed DD Gene|Biallelic|Loss of function|Chondrodysplasia with joint dislocations, GRAPP type|10766|614078|21549340|HP:0000007 ;HP:0000160 ;HP:0000347 ;HP:0000348 ;HP:0000365 ;HP:0000431 ;HP:0000520 ;HP:0001773 ;HP:0001831 ;HP:0002857 ;HP:0002999 ;HP:0003196 ;HP:0004322 ;HP:0004440 ;HP:0010049
chr8|61099906|61193971|ENSG00000178538.5|ENSG00000178538.5|CA8|CA8|Confirmed DD Gene|Biallelic|Loss of function|cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3)|10350|613227|21937992 ;19461874|HP:0000007 ;HP:0000486 ;HP:0001251 ;HP:0001256 ;HP:0001260 ;HP:0001337 ;HP:0001350 ;HP:0003577
chr8|61591337|61779465|ENSG00000171316.7|ENSG00000171316.7|CHD7|CHD7|Confirmed DD Gene|Monoallelic|Loss of function|CHARGE syndrome (CHARGES)|10881|214800|17661815 ;18074359 ;16400610 ;17334995 ;17937444 ;15300250 ;18978652|HP:0000006 ;HP:0000028 ;HP:0000044 ;HP:0000054 ;HP:0000066 ;HP:0000085 ;HP:0000089 ;HP:0000104 ;HP:0000126 ;HP:0000175 ;HP:0000204 ;HP:0000252 ;HP:0000272 ;HP:0000316 ;HP:0000321 ;HP:0000324 ;HP:0000347 ;HP:0000378 ;HP:0000394 ;HP:0000410 ;HP:0000458 ;HP:0000465 ;HP:0000480 ;HP:0000494 ;HP:0000508 ;HP:0000528 ;HP:0000568 ;HP:0000589 ;HP:0000612 ;HP:0000772 ;HP:0000821 ;HP:0000823 ;HP:0000824 ;HP:0000860 ;HP:0001018 ;HP:0001161 ;HP:0001171 ;HP:0001249 ;HP:0001537 ;HP:0001539 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001642 ;HP:0001643 ;HP:0001719 ;HP:0001888 ;HP:0002015 ;HP:0002023 ;HP:0002025 ;HP:0002032 ;HP:0002139 ;HP:0002247 ;HP:0002575 ;HP:0002650 ;HP:0002901 ;HP:0002937 ;HP:0003022 ;HP:0003745 ;HP:0003812 ;HP:0003974 ;HP:0004058 ;HP:0004404 ;HP:0004496 ;HP:0008213 ;HP:0008551 ;HP:0008721 ;HP:0008897 ;HP:0009778 ;HP:0010443 ;HP:0010628 ;HP:0011968 ;HP:0200021
chr8|61591337|61779465|ENSG00000171316.7|ENSG00000171316.7|CHD7|CHD7|Confirmed DD Gene|Monoallelic|Loss of function|Kallmann syndrome type 5 (KAL5)|10882|612370|18834967|HP:0000006 ;HP:0000044 ;HP:0000458
chr8|61591337|61779465|ENSG00000171316.7|ENSG00000171316.7|CHD7|CHD7|Confirmed DD Gene|Monoallelic|Loss of function|idiopathic hypogonadotropic hypogonadism (IHH)|10883|146110||HP:0000006 ;HP:0000044 ;HP:0000786 ;HP:0008734
chr8|62413116|62627155|ENSG00000198363.11|ENSG00000198363.11|ASPH|ASPH|Probable DD gene|Biallelic|Loss of function|FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS|13737||24768550|
chr8|67974661|68108498|ENSG00000104218.9|ENSG00000104218.9|CSPP1|CSPP1|Confirmed DD Gene|Biallelic|Loss of function|Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy|13688||24360808|
chr8|72109668|72274467|ENSG00000104313.13|ENSG00000104313.13|EYA1|EYA1|Confirmed DD Gene|Monoallelic|Loss of function|branchiootorenal syndrome type 1 (BOR1)|10274|113650|9361030 ;9020840 ;10655545 ;5365063 ;19206155|HP:0000006 ;HP:0000076 ;HP:0000104 ;HP:0000110 ;HP:0000113 ;HP:0000156 ;HP:0000175 ;HP:0000193 ;HP:0000275 ;HP:0000276 ;HP:0000376 ;HP:0000378 ;HP:0000384 ;HP:0000402 ;HP:0000407 ;HP:0000410 ;HP:0000410 ;HP:0000691 ;HP:0000799 ;HP:0001374 ;HP:0001425 ;HP:0002060 ;HP:0002566 ;HP:0003828 ;HP:0003829 ;HP:0004458 ;HP:0004467 ;HP:0004712 ;HP:0004742 ;HP:0007678 ;HP:0007925 ;HP:0008551 ;HP:0008586 ;HP:0009795 ;HP:0009796 ;HP:0009797 ;HP:0009798 ;HP:0010628 ;HP:0011094 ;HP:0100274
chr8|72109668|72274467|ENSG00000104313.13|ENSG00000104313.13|EYA1|EYA1|Confirmed DD Gene|Monoallelic|Loss of function|otofaciocervical syndrome (OFCS)|10306|166780|16441263|HP:0000006 ;HP:0000276 ;HP:0000405 ;HP:0000460 ;HP:0000472 ;HP:0001256 ;HP:0003691 ;HP:0004467 ;HP:0200021
chr8|74884672|74895018|ENSG00000175606.6|ENSG00000175606.6|TMEM70|TMEM70|Confirmed DD Gene|Biallelic|Loss of function|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|10814|614052|18953340 ;21147908|HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000308 ;HP:0000343 ;HP:0000369 ;HP:0000431 ;HP:0000518 ;HP:0001251 ;HP:0001263 ;HP:0001298 ;HP:0001337 ;HP:0001508 ;HP:0001511 ;HP:0001518 ;HP:0001537 ;HP:0001562 ;HP:0001622 ;HP:0001639 ;HP:0001987 ;HP:0002093 ;HP:0002151 ;HP:0003128 ;HP:0003535 ;HP:0003577 ;HP:0005469
chr8|77892494|77913280|ENSG00000164751.10|ENSG00000164751.10|PEX2|PEX2|Confirmed DD Gene|Biallelic|Loss of function|peroxisome biogenesis disorder complementation group 5 (PBD-CG5)|10480|170993||HP:0000028 ;HP:0000057 ;HP:0000175 ;HP:0000239 ;HP:0000262 ;HP:0000268 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000369 ;HP:0000580 ;HP:0000582 ;HP:0000778 ;HP:0000814 ;HP:0000952 ;HP:0000954 ;HP:0001088 ;HP:0001093 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001284 ;HP:0001401 ;HP:0001433 ;HP:0001508 ;HP:0001511 ;HP:0001762 ;HP:0001840 ;HP:0002033 ;HP:0002104 ;HP:0002126 ;HP:0002240 ;HP:0002564 ;HP:0002764 ;HP:0002967 ;HP:0003819 ;HP:0007227 ;HP:0007759 ;HP:0009473 ;HP:0011039 ;HP:0100540
chr8|77892494|77913280|ENSG00000164751.10|ENSG00000164751.10|PEX2|PEX2|Confirmed DD Gene|Biallelic|Loss of function|Zellweger syndrome (ZWS)|10614|214100||HP:0000007 ;HP:0000028 ;HP:0000047 ;HP:0000057 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000244 ;HP:0000256 ;HP:0000272 ;HP:0000286 ;HP:0000311 ;HP:0000316 ;HP:0000347 ;HP:0000348 ;HP:0000358 ;HP:0000407 ;HP:0000463 ;HP:0000501 ;HP:0000512 ;HP:0000518 ;HP:0000543 ;HP:0000580 ;HP:0000582 ;HP:0000639 ;HP:0000835 ;HP:0000954 ;HP:0001088 ;HP:0001193 ;HP:0001250 ;HP:0001252 ;HP:0001265 ;HP:0001284 ;HP:0001401 ;HP:0001425 ;HP:0001508 ;HP:0001591 ;HP:0001623 ;HP:0001629 ;HP:0001643 ;HP:0001762 ;HP:0001838 ;HP:0001840 ;HP:0002089 ;HP:0002126 ;HP:0002240 ;HP:0002282 ;HP:0002416 ;HP:0002750 ;HP:0002967 ;HP:0003355 ;HP:0003455 ;HP:0004492 ;HP:0004734 ;HP:0005469 ;HP:0005989 ;HP:0005989 ;HP:0006579 ;HP:0006887 ;HP:0006894 ;HP:0007370 ;HP:0007759 ;HP:0010655 ;HP:0010808 ;HP:0010864 ;HP:0011039
chr8|77892494|77913280|ENSG00000164751.10|ENSG00000164751.10|PEX2|PEX2|Confirmed DD Gene|Biallelic|Loss of function|infantile Refsum disease (IRD)|10615|266510||HP:0000007 ;HP:0000272 ;HP:0000407 ;HP:0000457 ;HP:0000510 ;HP:0000512 ;HP:0000556 ;HP:0000939 ;HP:0000954 ;HP:0001249 ;HP:0001252 ;HP:0001263 ;HP:0001265 ;HP:0001271 ;HP:0001508 ;HP:0001892 ;HP:0001999 ;HP:0002240 ;HP:0002570 ;HP:0003146 ;HP:0003577 ;HP:0008167
chr8|86376081|86393722|ENSG00000104267.5|ENSG00000104267.5|CA2|CA2|Confirmed DD Gene|Biallelic|Loss of function|osteopetrosis autosomal recessive type 3 (OPTB3)|10349|259730|8127074 ;12566520 ;1301935 ;5041390|HP:0000007 ;HP:0000572 ;HP:0000689 ;HP:0001249 ;HP:0001433 ;HP:0001903 ;HP:0001978 ;HP:0002135 ;HP:0002900 ;HP:0003034 ;HP:0003148 ;HP:0004322 ;HP:0004437 ;HP:0007807 ;HP:0008153 ;HP:0008341
chr8|90945564|91015456|ENSG00000104320.9|ENSG00000104320.9|NBN|NBN|Confirmed DD Gene|Biallelic|Loss of function|NIJMEGEN BREAKAGE SYNDROME|10648|251260|3802554 ;9590180|HP:0000007 ;HP:0000010 ;HP:0000126 ;HP:0000175 ;HP:0000204 ;HP:0000246 ;HP:0000252 ;HP:0000265 ;HP:0000340 ;HP:0000347 ;HP:0000388 ;HP:0000401 ;HP:0000453 ;HP:0000582 ;HP:0000752 ;HP:0000957 ;HP:0001249 ;HP:0001511 ;HP:0001587 ;HP:0001873 ;HP:0001890 ;HP:0002014 ;HP:0002023 ;HP:0002025 ;HP:0002110 ;HP:0002180 ;HP:0002665 ;HP:0002837 ;HP:0002859 ;HP:0002885 ;HP:0002961 ;HP:0003189 ;HP:0004322 ;HP:0004798 ;HP:0005403 ;HP:0005602 ;HP:0006532 ;HP:0009733 ;HP:0010620 ;HP:0010976
chr8|91013633|91064320|ENSG00000104325.2|ENSG00000104325.2|DECR1|DECR1|Possible DD Gene|Uncertain|Uncertain|2,4-Dienoyl-CoA Reductase Deficiency|12110|222745||HP:0000007 ;HP:0001319 ;HP:0002161 ;HP:0005972
chr8|94767072|94831462|ENSG00000164953.11|ENSG00000164953.11|TMEM67|TMEM67|Confirmed DD Gene|Biallelic|Loss of function|Meckel syndrome type 3 (MKS3)|11117|607361|17377820 ;16415887|HP:0000007 ;HP:0000107 ;HP:0001305 ;HP:0001408 ;HP:0002084 ;HP:0002335 ;HP:0002435 ;HP:0010442
chr8|94767072|94831462|ENSG00000164953.11|ENSG00000164953.11|TMEM67|TMEM67|Confirmed DD Gene|Biallelic|Loss of function|Joubert syndrome type 6|11131|610688||HP:0000007 ;HP:0000090 ;HP:0000546 ;HP:0000567 ;HP:0000618 ;HP:0000657 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001320 ;HP:0001395 ;HP:0001408 ;HP:0002404 ;HP:0002419 ;HP:0003774 ;HP:0005957 ;HP:0011933 ;HP:0100951
chr8|94767072|94831462|ENSG00000164953.11|ENSG00000164953.11|TMEM67|TMEM67|Confirmed DD Gene|Biallelic|Loss of function|COACH syndrome(COACHS)|11132|216360||HP:0000007 ;HP:0000083 ;HP:0000090 ;HP:0000154 ;HP:0000272 ;HP:0000311 ;HP:0000316 ;HP:0000463 ;HP:0000508 ;HP:0000589 ;HP:0000639 ;HP:0000657 ;HP:0001162 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001263 ;HP:0001320 ;HP:0001347 ;HP:0001394 ;HP:0001409 ;HP:0001425 ;HP:0001510 ;HP:0001744 ;HP:0002085 ;HP:0002240 ;HP:0002342 ;HP:0002910 ;HP:0003593 ;HP:0008659
chr8|94767072|94831462|ENSG00000164953.11|ENSG00000164953.11|TMEM67|TMEM67|Confirmed DD Gene|Biallelic|Uncertain|nephronophthisis type 11 (NPHP11)|11390|613550|19508969|HP:0000007 ;HP:0000090 ;HP:0000092 ;HP:0000103 ;HP:0000108 ;HP:0000486 ;HP:0000546 ;HP:0000639 ;HP:0001263 ;HP:0001395 ;HP:0001510 ;HP:0001903 ;HP:0001959 ;HP:0003774 ;HP:0005583 ;HP:0009916
chr8|96257147|96281429|ENSG00000156172.5|ENSG00000156172.5|C8orf37|C8orf37|Confirmed DD Gene|Biallelic|Loss of function|Cone-rod dystrophy 16|10710|614500|22177090|HP:0000007 ;HP:0000543 ;HP:0100259
chr8|97154562|97173020|ENSG00000156466.8|ENSG00000156466.8|GDF6|GDF6|Confirmed DD Gene|Monoallelic|Uncertain|Klippel-Feil syndrome type 1 (KFS1)|11206|118100|19129173 ;18425797|HP:0000006 ;HP:0000122 ;HP:0000175 ;HP:0000324 ;HP:0000407 ;HP:0000410 ;HP:0000465 ;HP:0000466 ;HP:0000470 ;HP:0000772 ;HP:0000912 ;HP:0001335 ;HP:0001425 ;HP:0002162 ;HP:0002564 ;HP:0002650 ;HP:0002813 ;HP:0003828 ;HP:0004602 ;HP:0005640 ;HP:0005988 ;HP:0007291
chr8|97154562|97173020|ENSG00000156466.8|ENSG00000156466.8|GDF6|GDF6|Confirmed DD Gene|Monoallelic|Uncertain|microphthalmia isolated type 4 (MCOP4)|11230|613094|19129173|HP:0000006 ;HP:0000568 ;HP:0000589 ;HP:0010469 ;HP:0100259
chr8|97238148|97247862|ENSG00000156467.5|ENSG00000156467.5|UQCRB|UQCRB|Probable DD gene|Biallelic|Loss of function|Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB-Related|11099|257827||
chr8|97273943|97349223|ENSG00000156471.8|ENSG00000156471.8|PTDSS1|PTDSS1|Confirmed DD Gene|Monoallelic|Activating|LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM|13683|151050|24241535|HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000041 ;HP:0000047 ;HP:0000164 ;HP:0000171 ;HP:0000239 ;HP:0000270 ;HP:0000316 ;HP:0000347 ;HP:0000386 ;HP:0000407 ;HP:0000452 ;HP:0000453 ;HP:0000885 ;HP:0000916 ;HP:0000963 ;HP:0000965 ;HP:0000973 ;HP:0001043 ;HP:0001159 ;HP:0001187 ;HP:0001249 ;HP:0001252 ;HP:0001274 ;HP:0001508 ;HP:0001511 ;HP:0001545 ;HP:0002007 ;HP:0002342 ;HP:0002750 ;HP:0002987 ;HP:0003015 ;HP:0003041 ;HP:0003745 ;HP:0004322 ;HP:0004482 ;HP:0005019 ;HP:0005477 ;HP:0006152 ;HP:0006380 ;HP:0007678 ;HP:0008070 ;HP:0009843 ;HP:0200061
chr8|100025494|100889808|ENSG00000132549.14|ENSG00000132549.14|VPS13B|VPS13B|Confirmed DD Gene|Biallelic|Loss of function|Cohen Syndrome|11100|193538||
chr8|101170134|101271506|ENSG00000104450.8|ENSG00000104450.8|SPAG1|SPAG1|Confirmed DD Gene|Biallelic|Loss of function|Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms.|13667||24055112|
chr8|104310661|104345094|ENSG00000164930.7|ENSG00000164930.7|FZD6|FZD6|Confirmed DD Gene|Biallelic|Loss of function|nail disorder non-syndromic congenital type 10 (NDNC10)|10897|614157|21665003|HP:0000007 ;HP:0001806
chr8|106330920|106816760|ENSG00000169946.9|ENSG00000169946.9|ZFPM2|ZFPM2|Possible DD Gene|Monoallelic|Loss of function|Diaphragmatic hernia 3	|13430|610187|16103912|HP:0000776
chr8|106330920|106816760|ENSG00000169946.9|ENSG00000169946.9|ZFPM2|ZFPM2|Possible DD Gene|Monoallelic|All missense/in frame|Tetralogy of Fallot	|13431|187500||HP:0000006 ;HP:0000337 ;HP:0000520 ;HP:0001636 ;HP:0004209 ;HP:0004467
chr8|106330920|106816760|ENSG00000169946.9|ENSG00000169946.9|ZFPM2|ZFPM2|Possible DD Gene|Monoallelic|All missense/in frame|46,XY gonadal dysgenesis|13748||24549039|
chr8|116420724|116821899|ENSG00000104447.7|ENSG00000104447.7|TRPS1|TRPS1|Confirmed DD Gene|Monoallelic|Loss of function|tricho-rhino-phalangeal syndrome type 1 (TRPS1)|10523|190350|11359471 ;14560312 ;10615131|HP:0000006 ;HP:0000189 ;HP:0000219 ;HP:0000343 ;HP:0000347 ;HP:0000400 ;HP:0000412 ;HP:0000447 ;HP:0000670 ;HP:0000684 ;HP:0000689 ;HP:0000691 ;HP:0000768 ;HP:0000938 ;HP:0001598 ;HP:0001763 ;HP:0001816 ;HP:0001820 ;HP:0002002 ;HP:0002205 ;HP:0002213 ;HP:0002217 ;HP:0002650 ;HP:0002750 ;HP:0002758 ;HP:0002805 ;HP:0002829 ;HP:0003279 ;HP:0003307 ;HP:0003370 ;HP:0003691 ;HP:0004322 ;HP:0005338 ;HP:0005743 ;HP:0006253 ;HP:0008070 ;HP:0008947 ;HP:0010049 ;HP:0010252 ;HP:0010259 ;HP:0010270 ;HP:0010300 ;HP:0010743 ;HP:0011823 ;HP:0200086
chr8|116420724|116821899|ENSG00000104447.7|ENSG00000104447.7|TRPS1|TRPS1|Confirmed DD Gene|Monoallelic|Loss of function|tricho-rhino-phalangeal syndrome type 2 (TRPS2)|10635|150230||HP:0000006 ;HP:0000076 ;HP:0000252 ;HP:0000365 ;HP:0000400 ;HP:0000414 ;HP:0000431 ;HP:0000490 ;HP:0000577 ;HP:0000750 ;HP:0000896 ;HP:0000918 ;HP:0001159 ;HP:0001249 ;HP:0001252 ;HP:0001382 ;HP:0001530 ;HP:0001808 ;HP:0002002 ;HP:0002209 ;HP:0002650 ;HP:0002788 ;HP:0003691 ;HP:0003764 ;HP:0005039 ;HP:0005743 ;HP:0007595 ;HP:0010230
chr8|116420724|116821899|ENSG00000104447.7|ENSG00000104447.7|TRPS1|TRPS1|Confirmed DD Gene|Monoallelic|Loss of function|tricho-rhino-phalangeal syndrome type 3|10636|190351|11950061 ;11807863 ;11112658|HP:0000006 ;HP:0000219 ;HP:0000319 ;HP:0000343 ;HP:0000411 ;HP:0000430 ;HP:0000447 ;HP:0000678 ;HP:0000707 ;HP:0000938 ;HP:0001773 ;HP:0002650 ;HP:0002750 ;HP:0002805 ;HP:0003279 ;HP:0004279 ;HP:0004322 ;HP:0005338 ;HP:0005743 ;HP:0008070 ;HP:0009381 ;HP:0009803 ;HP:0010049 ;HP:0010259 ;HP:0010743 ;HP:0011069 ;HP:0200086
chr8|117858174|117887105|ENSG00000164754.8|ENSG00000164754.8|RAD21|RAD21|Confirmed DD Gene|Monoallelic|Loss of function|Cohesinopathy|13374|614701|22633399; 22633399|HP:0000006 ;HP:0000175 ;HP:0000219 ;HP:0000252 ;HP:0000319 ;HP:0000343 ;HP:0000431 ;HP:0000574 ;HP:0000664 ;HP:0000965 ;HP:0001159 ;HP:0001263 ;HP:0002020 ;HP:0002553 ;HP:0002937 ;HP:0003812 ;HP:0004322 ;HP:0008428 ;HP:0100777 ;HP:0200086
chr8|118806729|119124092|ENSG00000182197.6|ENSG00000182197.6|EXT1|EXT1|Confirmed DD Gene|Monoallelic|Loss of function|hereditary multiple exostoses type 1 (EXT1)|10384|133700|7550340 ;15253765 ;8981950 ;9326317|HP:0000006 ;HP:0000896 ;HP:0000918 ;HP:0001760 ;HP:0002318 ;HP:0002812 ;HP:0002857 ;HP:0003068 ;HP:0003105 ;HP:0003276 ;HP:0003406 ;HP:0003621 ;HP:0004322 ;HP:0006765 ;HP:0010049
chr8|118806729|119124092|ENSG00000182197.6|ENSG00000182197.6|EXT1|EXT1|Confirmed DD Gene|Monoallelic|Loss of function|tricho-rhino-phalangeal syndrome type 2 (TRPS2)|10567|150230||HP:0000006 ;HP:0000076 ;HP:0000252 ;HP:0000365 ;HP:0000400 ;HP:0000414 ;HP:0000431 ;HP:0000490 ;HP:0000577 ;HP:0000750 ;HP:0000896 ;HP:0000918 ;HP:0001159 ;HP:0001249 ;HP:0001252 ;HP:0001382 ;HP:0001530 ;HP:0001808 ;HP:0002002 ;HP:0002209 ;HP:0002650 ;HP:0002788 ;HP:0003691 ;HP:0003764 ;HP:0005039 ;HP:0005743 ;HP:0007595 ;HP:0010230
chr8|120743015|120845103|ENSG00000064313.7|ENSG00000064313.7|TAF2|TAF2|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10041||21937992|
chr8|133584320|133687838|ENSG00000129295.4|ENSG00000129295.4|LRRC6|LRRC6|Confirmed DD Gene|Biallelic|Loss of function|Primary ciliary diskinesia|13470|614935|23122589; 23122589|HP:0000007 ;HP:0000403 ;HP:0000462 ;HP:0001696 ;HP:0002110 ;HP:0004469 ;HP:0011108 ;HP:0012259 ;HP:0012263 ;HP:0200073
chr8|140613081|140715299|ENSG00000169427.2|ENSG00000169427.2|KCNK9|KCNK9|Possible DD Gene|Imprinted|Dominant negative|Birk-Barel syndrome (BIBAS)|10244|612292||HP:0000006 ;HP:0000156 ;HP:0000322 ;HP:0000341 ;HP:0000574 ;HP:0000960 ;HP:0001249 ;HP:0001252 ;HP:0002015 ;HP:0002553 ;HP:0008872 ;HP:0011229 ;HP:0011819
chr8|140742586|141468678|ENSG00000167632.10|ENSG00000167632.10|TRAPPC9|TRAPPC9|Confirmed DD Gene|Biallelic|Loss of function|mental retardation autosomal recessive type 13 (MRT13)|10521|613192|22549410 ;20004763 ;17120046 ;20004764|HP:0000007 ;HP:0000204 ;HP:0000316 ;HP:0000431 ;HP:0000470 ;HP:0000601 ;HP:0000664 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001956 ;HP:0002319 ;HP:0002334 ;HP:0002714 ;HP:0003593 ;HP:0005484 ;HP:0200090
chr8|144873090|144897549|ENSG00000180900.12|ENSG00000180900.12|SCRIB|SCRIB|Possible DD Gene|Monoallelic|Loss of function|8q24.3 deletion-like|13695||24140112|
chr8|144898514|144912029|ENSG00000179950.9|ENSG00000179950.9|PUF60|PUF60|Possible DD Gene|Monoallelic|Loss of function|8q24.3 deletion-like|13694||24140112|
chr8|144989321|145050902|ENSG00000178209.10|ENSG00000178209.10|PLEC|PLEC|Confirmed DD Gene|Biallelic|Loss of function|Muscular dystrophy, limb-girdle, type 2Q|10731|613723||HP:0000007 ;HP:0001270 ;HP:0002938 ;HP:0003202 ;HP:0003236 ;HP:0003324 ;HP:0003391 ;HP:0003551 ;HP:0003560 ;HP:0003678
chr8|144989321|145050902|ENSG00000178209.10|ENSG00000178209.10|PLEC|PLEC|Confirmed DD Gene|Biallelic|Loss of function|Epidermolysis bullosa simplex with pyloric atresia|10772|612138||HP:0000007 ;HP:0000430 ;HP:0000490 ;HP:0001030 ;HP:0001371 ;HP:0001561 ;HP:0003577 ;HP:0008066 ;HP:0008551
chr8|145149930|145152428|ENSG00000179091.4|ENSG00000179091.4|CYC1|CYC1|Confirmed DD Gene|Biallelic|All missense/in frame|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6|13659|615453|23910460|
chr8|145539954|145550573|ENSG00000185000.5|ENSG00000185000.5|DGAT1|DGAT1|Possible DD Gene|Biallelic|Loss of function|Congenital diarrheal disorders |13592||23114594|
chr8|145736667|145743229|ENSG00000160957.8|ENSG00000160957.8|RECQL4|RECQL4|Confirmed DD Gene|Biallelic|Loss of function|Rothmund-Thomson syndrome (RTS)|10271|268400|12838562 ;9878247 ;10319867 ;10678659 ;20503338 ;12734318; 10319867|HP:0000007 ;HP:0000028 ;HP:0000135 ;HP:0000303 ;HP:0000482 ;HP:0000486 ;HP:0000501 ;HP:0000568 ;HP:0000684 ;HP:0000691 ;HP:0000939 ;HP:0000992 ;HP:0001009 ;HP:0001029 ;HP:0001249 ;HP:0001374 ;HP:0001545 ;HP:0001596 ;HP:0001597 ;HP:0001734 ;HP:0001762 ;HP:0001773 ;HP:0002007 ;HP:0002216 ;HP:0002669 ;HP:0002671 ;HP:0002751 ;HP:0002860 ;HP:0003196 ;HP:0004279 ;HP:0004322 ;HP:0004334 ;HP:0006349 ;HP:0006368 ;HP:0007713 ;HP:0008070 ;HP:0009778 ;HP:0011069 ;HP:0200055
chr8|145736667|145743229|ENSG00000160957.8|ENSG00000160957.8|RECQL4|RECQL4|Confirmed DD Gene|Biallelic|Loss of function|RAPADILINO syndrome|10299|266280|12952869; 12952869|HP:0000007 ;HP:0000156 ;HP:0000175 ;HP:0000276 ;HP:0000331 ;HP:0000365 ;HP:0000417 ;HP:0000581 ;HP:0001070 ;HP:0001373 ;HP:0002014 ;HP:0004322 ;HP:0005198 ;HP:0006498 ;HP:0006501 ;HP:0009777
chr8|145736667|145743229|ENSG00000160957.8|ENSG00000160957.8|RECQL4|RECQL4|Confirmed DD Gene|Biallelic|Loss of function|Baller-Gerold syndrome (BGS)|10300|218600|15964893 ;9934984 ;11754069; 15964893|HP:0000007 ;HP:0000077 ;HP:0000143 ;HP:0000160 ;HP:0000175 ;HP:0000193 ;HP:0000218 ;HP:0000238 ;HP:0000244 ;HP:0000286 ;HP:0000316 ;HP:0000347 ;HP:0000368 ;HP:0000405 ;HP:0000426 ;HP:0000430 ;HP:0000452 ;HP:0000486 ;HP:0000494 ;HP:0000545 ;HP:0000648 ;HP:0000902 ;HP:0001249 ;HP:0001250 ;HP:0001274 ;HP:0001545 ;HP:0002023 ;HP:0002126 ;HP:0002564 ;HP:0002650 ;HP:0002984 ;HP:0002996 ;HP:0003022 ;HP:0003031 ;HP:0003065 ;HP:0003298 ;HP:0003468 ;HP:0003974 ;HP:0004231 ;HP:0004322 ;HP:0004425 ;HP:0004440 ;HP:0004442 ;HP:0004443 ;HP:0004871 ;HP:0005201 ;HP:0005792 ;HP:0005886 ;HP:0006467 ;HP:0007452 ;HP:0009601 ;HP:0009702 ;HP:0010048
chr9|214854|465259|ENSG00000107099.11|ENSG00000107099.11|DOCK8|DOCK8|Possible DD Gene|Biallelic|Loss of function| hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES)|10886|243700||HP:0000007 ;HP:0000964 ;HP:0001047 ;HP:0001880 ;HP:0002099 ;HP:0002138 ;HP:0002301 ;HP:0002664 ;HP:0002718 ;HP:0002841 ;HP:0003593 ;HP:0004429 ;HP:0005318 ;HP:0005425
chr9|214854|465259|ENSG00000107099.11|ENSG00000107099.11|DOCK8|DOCK8|Possible DD Gene|Monoallelic|Uncertain|mental retardation autosomal dominant type 2 (MRD2)|11373|614113||
chr9|470291|746105|ENSG00000107104.14|ENSG00000107104.14|KANK1|KANK1|Possible DD Gene|Imprinted|Loss of function|cerebral palsy spastic quadriplegic type 2 (CPSQ2)|10423|612900||HP:0001249 ;HP:0001252 ;HP:0002059 ;HP:0002119 ;HP:0002510 ;HP:0012275
chr9|2015342|2193624|ENSG00000080503.15|ENSG00000080503.15|SMARCA2|SMARCA2|Confirmed DD Gene|Monoallelic|All missense/in frame|NICOLAIDES-BARAITSER SYNDROME|10116|601358|19606471 ;22426308 ;22366787|HP:0000028 ;HP:0000154 ;HP:0000179 ;HP:0000232 ;HP:0000252 ;HP:0000289 ;HP:0000294 ;HP:0000325 ;HP:0000343 ;HP:0000446 ;HP:0000463 ;HP:0000494 ;HP:0000687 ;HP:0000718 ;HP:0000964 ;HP:0001156 ;HP:0001250 ;HP:0001508 ;HP:0001511 ;HP:0001852 ;HP:0002209 ;HP:0002465 ;HP:0002650 ;HP:0004322 ;HP:0006237 ;HP:0007946 ;HP:0009803 ;HP:0010049 ;HP:0010743 ;HP:0010864
chr9|2015342|2193624|ENSG00000080503.15|ENSG00000080503.15|SMARCA2|SMARCA2|Confirmed DD Gene|Monoallelic|Loss of function|Coffin Siris|11187|135900||HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000047 ;HP:0000086 ;HP:0000089 ;HP:0000126 ;HP:0000151 ;HP:0000154 ;HP:0000156 ;HP:0000175 ;HP:0000179 ;HP:0000252 ;HP:0000280 ;HP:0000365 ;HP:0000384 ;HP:0000453 ;HP:0000455 ;HP:0000483 ;HP:0000486 ;HP:0000508 ;HP:0000527 ;HP:0000545 ;HP:0000574 ;HP:0000601 ;HP:0000639 ;HP:0000684 ;HP:0000718 ;HP:0000729 ;HP:0000776 ;HP:0000879 ;HP:0000954 ;HP:0000960 ;HP:0000965 ;HP:0001028 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001305 ;HP:0001338 ;HP:0001388 ;HP:0001511 ;HP:0001537 ;HP:0001629 ;HP:0001631 ;HP:0001636 ;HP:0001643 ;HP:0002079 ;HP:0002205 ;HP:0002209 ;HP:0002219 ;HP:0002566 ;HP:0002576 ;HP:0002588 ;HP:0002592 ;HP:0002650 ;HP:0002673 ;HP:0002750 ;HP:0002808 ;HP:0003083 ;HP:0003298 ;HP:0004227 ;HP:0004322 ;HP:0005280 ;HP:0006498 ;HP:0006863 ;HP:0008398 ;HP:0008872 ;HP:0008897 ;HP:0009747 ;HP:0100391
chr9|2621834|2660053|ENSG00000147852.11|ENSG00000147852.11|VLDLR|VLDLR|Confirmed DD Gene|Biallelic|Loss of function|cerebellar ataxia mental retardation and dysequilibrium syndrome type 1 (CMARQ1)|10530|224050|16080122 ;18043714 ;18326629|HP:0000007 ;HP:0000486 ;HP:0000518 ;HP:0000640 ;HP:0000750 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001260 ;HP:0001263 ;HP:0001272 ;HP:0001302 ;HP:0001310 ;HP:0001321 ;HP:0001347 ;HP:0001763 ;HP:0001939 ;HP:0002066 ;HP:0002075 ;HP:0002078 ;HP:0002080 ;HP:0002136 ;HP:0002465 ;HP:0003577 ;HP:0003680 ;HP:0004322 ;HP:0009879
chr9|3824127|4348392|ENSG00000107249.17|ENSG00000107249.17|GLIS3|GLIS3|Confirmed DD Gene|Biallelic|Loss of function|diabetes mellitus neonatal with congenital hypothyroidism (NDH)|10298|610199|12966531|HP:0000007 ;HP:0000107 ;HP:0000819 ;HP:0000851 ;HP:0001087 ;HP:0001396 ;HP:0001511
chr9|6532464|6645650|ENSG00000178445.8|ENSG00000178445.8|GLDC|GLDC|Confirmed DD Gene|Biallelic|Loss of function|GLDC-Related Glycine Encephalopathy|12339|605899|11592811 ;15864413 ;15824356 ;15851735 ;15236413 ;1634607 ;10798358 ;10873393 ;445864 ;9600239 ;9621520 ;8005589 ;10873393; 10798358|HP:0000007 ;HP:0000711 ;HP:0000718 ;HP:0000737 ;HP:0000752 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001265 ;HP:0001274 ;HP:0001336 ;HP:0001347 ;HP:0001522 ;HP:0002154 ;HP:0003108 ;HP:0008288 ;HP:0100247 ;HP:0100710
chr9|12685439|12710290|ENSG00000107165.8|ENSG00000107165.8|TYRP1|TYRP1|Confirmed DD Gene|Biallelic|Loss of function|Oculocutaneous Albinism Type 3|13318|203290|8651291 ;19533799 ;15996218 ;16704458|HP:0000007 ;HP:0000486 ;HP:0000639 ;HP:0002297 ;HP:0007443
chr9|14734664|14910993|ENSG00000164946.15|ENSG00000164946.15|FREM1|FREM1|Confirmed DD Gene|Biallelic|Loss of function|Manitoba oculotrichoanal syndrome|10888|248450|11332973 ;17352387|HP:0000007 ;HP:0000316 ;HP:0000528 ;HP:0000568 ;HP:0000579 ;HP:0000625 ;HP:0001539 ;HP:0001545 ;HP:0001595 ;HP:0002025
chr9|27109139|27230173|ENSG00000120156.16|ENSG00000120156.16|TEK|TEK|Confirmed DD Gene|Monoallelic|All missense/in frame|Venous malformations, multiple cutaneous and mucosal|10158|600195|7833915 ;10369874 ;19888299|HP:0000006 ;HP:0000153 ;HP:0002584
chr9|32972604|33025166|ENSG00000137074.14|ENSG00000137074.14|APTX|APTX|Confirmed DD Gene|Biallelic|Loss of function|Ataxia with Oculomotor Apraxia 1|11829|208920|15365154 ;15852392 ;11586299 ;11586300 ;12196655; 11586300|HP:0000007 ;HP:0000571 ;HP:0000590 ;HP:0000640 ;HP:0000657 ;HP:0000764 ;HP:0001251 ;HP:0001260 ;HP:0001265 ;HP:0001266 ;HP:0001268 ;HP:0001272 ;HP:0001284 ;HP:0001324 ;HP:0001332 ;HP:0001337 ;HP:0001761 ;HP:0002066 ;HP:0002070 ;HP:0002078 ;HP:0002650 ;HP:0002936 ;HP:0003073 ;HP:0003124 ;HP:0003387 ;HP:0003581 ;HP:0003621 ;HP:0003693 ;HP:0100543
chr9|34638130|34651032|ENSG00000213930.7|ENSG00000213930.7|GALT|GALT|Confirmed DD Gene|Biallelic|Loss of function|galactosemia (GALCT)|10399|230400|2233247 ;9222760 ;9012409 ;10439960 ;8869397 ;1610789 ;1897530 ;2011574|HP:0000007 ;HP:0000518 ;HP:0000815 ;HP:0001249 ;HP:0001394 ;HP:0001410 ;HP:0001508 ;HP:0001878 ;HP:0001942 ;HP:0002013 ;HP:0002014 ;HP:0002240 ;HP:0003355 ;HP:0004918 ;HP:0008209 ;HP:0012023 ;HP:0012024
chr9|35073832|35080013|ENSG00000221829.5|ENSG00000221829.5|FANCG|FANCG|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia, complementation group G|10652|614082|12552564 ;9806548 ;15657175 ;10807541|
chr9|35088685|35096591|ENSG00000165282.9|ENSG00000165282.9|PIGO|PIGO|Confirmed DD Gene|Biallelic|Loss of function|HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2|13392|614749|22683086|HP:0000007 ;HP:0000076 ;HP:0000252 ;HP:0000316 ;HP:0000431 ;HP:0000455 ;HP:0000637 ;HP:0000750 ;HP:0001250 ;HP:0001357 ;HP:0001510 ;HP:0001631 ;HP:0002023 ;HP:0002025 ;HP:0002119 ;HP:0003155 ;HP:0003196 ;HP:0003577 ;HP:0010804
chr9|35657748|35658015|ENSG00000269900.2|ENSG00000269900.2|RMRP|RMRP|Confirmed DD Gene|Biallelic|Loss of function|Cartilage-Hair Hypoplasia|12976|250250||HP:0000007 ;HP:0000248 ;HP:0000535 ;HP:0000653 ;HP:0001377 ;HP:0001382 ;HP:0001875 ;HP:0001888 ;HP:0001972 ;HP:0002024 ;HP:0002032 ;HP:0002213 ;HP:0002251 ;HP:0002286 ;HP:0002644 ;HP:0002650 ;HP:0002665 ;HP:0002938 ;HP:0003347 ;HP:0004279 ;HP:0004804 ;HP:0004810 ;HP:0005360 ;HP:0005374 ;HP:0006589 ;HP:0007464 ;HP:0008069 ;HP:0008450 ;HP:0008921 ;HP:0100255
chr9|35736863|35749983|ENSG00000070610.10|ENSG00000070610.10|GBA2|GBA2|Confirmed DD Gene|Biallelic|Loss of function|Autosomal-Recessive Cerebellar Ataxia with Spasticity.|13508||23332917|
chr9|35792151|35809729|ENSG00000159899.10|ENSG00000159899.10|NPR2|NPR2|Confirmed DD Gene|Biallelic|Loss of function|acromesomelic dysplasia Maroteaux type (AMDM)|10880|602875]||
chr9|37766975|37801434|ENSG00000107371.8|ENSG00000107371.8|EXOSC3|EXOSC3|Confirmed DD Gene|Biallelic|All missense/in frame|Pontocerebellar hypoplasia type 1	|13369|607596||HP:0000007 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001324 ;HP:0001347 ;HP:0001760 ;HP:0002093 ;HP:0002171 ;HP:0002380 ;HP:0002398 ;HP:0002529 ;HP:0002803 ;HP:0003445 ;HP:0003577 ;HP:0003676 ;HP:0006850 ;HP:0007053 ;HP:0007269 ;HP:0008872
chr9|80912059|80945009|ENSG00000135069.9|ENSG00000135069.9|PSAT1|PSAT1|Probable DD gene|Biallelic|Loss of function|Phosphoserine aminotransferase deficiency|13565|610992|17436247; 17436247|HP:0000007 ;HP:0001250 ;HP:0001263 ;HP:0001276 ;HP:0001320 ;HP:0003593 ;HP:0005484 ;HP:0008872 ;HP:0012277 ;HP:0012279
chr9|91933421|91974557|ENSG00000187742.10|ENSG00000187742.10|SECISBP2|SECISBP2|Probable DD gene|Biallelic|Loss of function|Thyroid hormone metabolism, abnormal|10777|609698|16228000|HP:0000007 ;HP:0002750 ;HP:0002925
chr9|93976097|94124195|ENSG00000148090.7|ENSG00000148090.7|AUH|AUH|Confirmed DD Gene|Biallelic|Loss of function|3-methylglutaconic aciduria type 1|10944|250950|6181239 ;12434311 ;15033206 ;10070612 ;20855850|HP:0000007 ;HP:0000020 ;HP:0000648 ;HP:0000736 ;HP:0000750 ;HP:0001251 ;HP:0001260 ;HP:0001270 ;HP:0001332 ;HP:0001347 ;HP:0001508 ;HP:0001942 ;HP:0002059 ;HP:0002305 ;HP:0002352 ;HP:0002373 ;HP:0002510 ;HP:0003593 ;HP:0003812
chr9|94325373|94712444|ENSG00000169071.10|ENSG00000169071.10|ROR2|ROR2|Confirmed DD Gene|Monoallelic|Loss of function|Brachydactyly, Type B1|11068|113000|19533773 ;19461659 ;10700182 ;10986040|HP:0000006 ;HP:0000054 ;HP:0000260 ;HP:0000270 ;HP:0000684 ;HP:0000696 ;HP:0001159 ;HP:0001629 ;HP:0001760 ;HP:0002937 ;HP:0002944 ;HP:0002948 ;HP:0003026 ;HP:0004590 ;HP:0005819 ;HP:0008384 ;HP:0009370 ;HP:0009473 ;HP:0009835 ;HP:0010048 ;HP:0011304
chr9|94325373|94712444|ENSG00000169071.10|ENSG00000169071.10|ROR2|ROR2|Confirmed DD Gene|Biallelic|Loss of function|ROR2-Related Disorders AR|11069|268310|10932186 ;18831060 ;19640924 ;15952209 ;10932187|HP:0000007 ;HP:0000023 ;HP:0000028 ;HP:0000054 ;HP:0000059 ;HP:0000060 ;HP:0000075 ;HP:0000126 ;HP:0000158 ;HP:0000207 ;HP:0000212 ;HP:0000219 ;HP:0000256 ;HP:0000260 ;HP:0000272 ;HP:0000278 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000463 ;HP:0000470 ;HP:0000494 ;HP:0000520 ;HP:0000527 ;HP:0000637 ;HP:0000678 ;HP:0000767 ;HP:0000902 ;HP:0000921 ;HP:0001052 ;HP:0001249 ;HP:0001263 ;HP:0001537 ;HP:0001705 ;HP:0001837 ;HP:0001853 ;HP:0002007 ;HP:0002164 ;HP:0002650 ;HP:0002750 ;HP:0003027 ;HP:0003196 ;HP:0004220 ;HP:0004279 ;HP:0004322 ;HP:0005280 ;HP:0008467 ;HP:0009370 ;HP:0009466 ;HP:0009883 ;HP:0010292 ;HP:0010297 ;HP:0011304 ;HP:0200055 ;HP:0200086
chr9|94325373|94712444|ENSG00000169071.10|ENSG00000169071.10|ROR2|ROR2|Confirmed DD Gene|Monoallelic|Loss of function|ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS|13512|180700||HP:0000006 ;HP:0000023 ;HP:0000028 ;HP:0000054 ;HP:0000059 ;HP:0000060 ;HP:0000075 ;HP:0000126 ;HP:0000156 ;HP:0000158 ;HP:0000202 ;HP:0000207 ;HP:0000212 ;HP:0000219 ;HP:0000256 ;HP:0000260 ;HP:0000272 ;HP:0000278 ;HP:0000286 ;HP:0000316 ;HP:0000343 ;HP:0000347 ;HP:0000358 ;HP:0000369 ;HP:0000431 ;HP:0000463 ;HP:0000463 ;HP:0000470 ;HP:0000494 ;HP:0000520 ;HP:0000527 ;HP:0000582 ;HP:0000637 ;HP:0000678 ;HP:0000684 ;HP:0000767 ;HP:0001052 ;HP:0001249 ;HP:0001263 ;HP:0001537 ;HP:0001705 ;HP:0001837 ;HP:0001853 ;HP:0002007 ;HP:0002164 ;HP:0002714 ;HP:0002750 ;HP:0003027 ;HP:0003196 ;HP:0004220 ;HP:0004279 ;HP:0004322 ;HP:0005280 ;HP:0008905 ;HP:0009466 ;HP:0009883 ;HP:0010290 ;HP:0010297 ;HP:0011304 ;HP:0200055 ;HP:0200086
chr9|95473645|95527094|ENSG00000185963.9|ENSG00000185963.9|BICD2|BICD2|Confirmed DD Gene|Monoallelic|All missense/in frame|Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance|13571||23664120|
chr9|97365415|97402531|ENSG00000165140.5|ENSG00000165140.5|FBP1|FBP1|Confirmed DD Gene|Biallelic|Loss of function|Fructose 1,6 Bisphosphatase Deficiency|12230|229700|7763253 ;12126934|HP:0000007 ;HP:0000737 ;HP:0001250 ;HP:0001252 ;HP:0001254 ;HP:0001259 ;HP:0001649 ;HP:0001942 ;HP:0001943 ;HP:0001945 ;HP:0001946 ;HP:0002094 ;HP:0002104 ;HP:0002240 ;HP:0002883
chr9|97861336|98079991|ENSG00000158169.7|ENSG00000158169.7|FANCC|FANCC|Confirmed DD Gene|Biallelic|Loss of function|Fanconi anemia, complementation group C|10656|227645|20869034 ;10431244 ;8348157|HP:0000007 ;HP:0000028 ;HP:0000081 ;HP:0000085 ;HP:0000086 ;HP:0000104 ;HP:0000252 ;HP:0000365 ;HP:0000486 ;HP:0000568 ;HP:0000792 ;HP:0000815 ;HP:0000957 ;HP:0000978 ;HP:0001017 ;HP:0001249 ;HP:0001518 ;HP:0001873 ;HP:0001875 ;HP:0001876 ;HP:0001896 ;HP:0001903 ;HP:0001909 ;HP:0002564 ;HP:0003213 ;HP:0003214 ;HP:0003221 ;HP:0003974 ;HP:0004322 ;HP:0009777 ;HP:0009778 ;HP:0009943
chr9|98205262|98279339|ENSG00000185920.11|ENSG00000185920.11|PTCH1|PTCH1|Confirmed DD Gene|Monoallelic|Loss of function|BASAL CELL NEVUS SYNDROME; BCNS|10642|109400|12900905 ;8681379 ;8658145 ;22572734|HP:0000006 ;HP:0000175 ;HP:0000204 ;HP:0000238 ;HP:0000242 ;HP:0000256 ;HP:0000280 ;HP:0000303 ;HP:0000316 ;HP:0000431 ;HP:0000486 ;HP:0000501 ;HP:0000518 ;HP:0000568 ;HP:0000612 ;HP:0000766 ;HP:0000773 ;HP:0000892 ;HP:0000912 ;HP:0001056 ;HP:0001144 ;HP:0001249 ;HP:0001270 ;HP:0001425 ;HP:0002007 ;HP:0002007 ;HP:0002414 ;HP:0002650 ;HP:0002671 ;HP:0002751 ;HP:0002885 ;HP:0002937 ;HP:0002948 ;HP:0003828 ;HP:0004280 ;HP:0004795 ;HP:0005449 ;HP:0005462 ;HP:0005815 ;HP:0008422 ;HP:0009650 ;HP:0009729 ;HP:0010044 ;HP:0010442 ;HP:0010603 ;HP:0010609 ;HP:0010610 ;HP:0010612 ;HP:0010617 ;HP:0010618 ;HP:0200021
chr9|98205262|98279339|ENSG00000185920.11|ENSG00000185920.11|PTCH1|PTCH1|Confirmed DD Gene|Monoallelic|Uncertain|Holoprosencephaly-7|11366|610828|11941477 ;17001668|HP:0000006 ;HP:0000242 ;HP:0000256 ;HP:0000283 ;HP:0000316 ;HP:0000327 ;HP:0000400 ;HP:0000437 ;HP:0000601 ;HP:0000689 ;HP:0000871 ;HP:0001263 ;HP:0001274 ;HP:0001539 ;HP:0002007 ;HP:0002507 ;HP:0002744 ;HP:0003196 ;HP:0004122 ;HP:0005273 ;HP:0005326 ;HP:0005469 ;HP:0006315 ;HP:0007633 ;HP:0008501 ;HP:0010649 ;HP:0010650 ;HP:0010663
chr9|98637983|98776842|ENSG00000182150.11|ENSG00000182150.11|ERCC6L2|ERCC6L2|Confirmed DD Gene|Biallelic|Loss of function|Bone marrow failure syndrome 2	|13727|615715|24507776|
chr9|100174232|100258407|ENSG00000196116.6|ENSG00000196116.6|TDRD7|TDRD7|Possible DD Gene|Biallelic|Uncertain|cataract congenital autosomal recessive type 4 (CATC4) |11210|613887||
chr9|100437191|100459639|ENSG00000136936.6|ENSG00000136936.6|XPA|XPA|Confirmed DD Gene|Biallelic|Loss of function|Xeroderma pigmentosum, group A|10650|278700|1372102 ;1339397 ;2234061 ;16098033|HP:0000007 ;HP:0000252 ;HP:0000407 ;HP:0000491 ;HP:0000509 ;HP:0000613 ;HP:0000621 ;HP:0000656 ;HP:0000992 ;HP:0001009 ;HP:0001029 ;HP:0001249 ;HP:0001251 ;HP:0001257 ;HP:0001265 ;HP:0001266 ;HP:0001268 ;HP:0003079 ;HP:0004334
chr9|100615536|100618986|ENSG00000178919.7|ENSG00000178919.7|FOXE1|FOXE1|Confirmed DD Gene|Biallelic|All missense/in frame|Bamforth-Lazarus syndrome	|12258|241850||HP:0000007 ;HP:0000175 ;HP:0000453 ;HP:0001561 ;HP:0008191 ;HP:0010564
chr9|101866320|101916474|ENSG00000106799.8|ENSG00000106799.8|TGFBR1|TGFBR1|Confirmed DD Gene|Monoallelic|Uncertain|Loeys-Dietz syndrome type 1A (LDS1A)|11284|609192|16596670 ;15731757|HP:0000006 ;HP:0000175 ;HP:0000193 ;HP:0000238 ;HP:0000272 ;HP:0000278 ;HP:0000316 ;HP:0000347 ;HP:0000520 ;HP:0000577 ;HP:0000592 ;HP:0000766 ;HP:0000977 ;HP:0001162 ;HP:0001166 ;HP:0001249 ;HP:0001263 ;HP:0001363 ;HP:0001388 ;HP:0001425 ;HP:0001519 ;HP:0001631 ;HP:0001634 ;HP:0001643 ;HP:0001647 ;HP:0001762 ;HP:0002308 ;HP:0002631 ;HP:0002650 ;HP:0004933 ;HP:0004937 ;HP:0004944 ;HP:0004954 ;HP:0004955 ;HP:0005182 ;HP:0009473 ;HP:0010648
chr9|101866320|101916474|ENSG00000106799.8|ENSG00000106799.8|TGFBR1|TGFBR1|Confirmed DD Gene|Monoallelic|Uncertain|Loeys-Dietz syndrome type 2A (LDS2A)|11358|608967|18070134 ;16928994 ;16791849|HP:0000006 ;HP:0000023 ;HP:0000193 ;HP:0000974 ;HP:0000977 ;HP:0000978 ;HP:0001075 ;HP:0001388 ;HP:0002631 ;HP:0004933 ;HP:0004955
chr9|101866320|101916474|ENSG00000106799.8|ENSG00000106799.8|TGFBR1|TGFBR1|Confirmed DD Gene|Monoallelic|Uncertain|aortic aneurysm familial thoracic type 5 (AAT5)|11359|608967|18070134 ;16928994 ;16791849|HP:0000006 ;HP:0000023 ;HP:0000193 ;HP:0000974 ;HP:0000977 ;HP:0000978 ;HP:0001075 ;HP:0001388 ;HP:0002631 ;HP:0004933 ;HP:0004955
chr9|101978708|101984238|ENSG00000119523.8|ENSG00000119523.8|ALG2|ALG2|Probable DD gene|Biallelic|Loss of function|ALG2-CDG (CDG-Ii)|11005|237149||
chr9|104182860|104198105|ENSG00000136872.13|ENSG00000136872.13|ALDOB|ALDOB|Both DD and IF|Biallelic|Loss of function|Hereditary Fructose Intolerance|11797|229600|3383242|HP:0000007 ;HP:0000114 ;HP:0000952 ;HP:0001250 ;HP:0001254 ;HP:0001259 ;HP:0001394 ;HP:0001397 ;HP:0001508 ;HP:0001942 ;HP:0001943 ;HP:0002013 ;HP:0002018 ;HP:0002027 ;HP:0002049 ;HP:0002148 ;HP:0002149 ;HP:0002239 ;HP:0002240 ;HP:0002904 ;HP:0002910 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003149 ;HP:0003646 ;HP:0004395 ;HP:0005973 ;HP:0008273
chr9|108320411|108403399|ENSG00000106692.9|ENSG00000106692.9|FKTN|FKTN|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4)|10387|253800|21228398 ;14627679 ;17878207 ;9690476 ;10545611 ;12601708 ;19179078|HP:0000007 ;HP:0000238 ;HP:0000486 ;HP:0000496 ;HP:0000518 ;HP:0000540 ;HP:0000541 ;HP:0000545 ;HP:0000568 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001274 ;HP:0001284 ;HP:0001302 ;HP:0001321 ;HP:0001324 ;HP:0001360 ;HP:0001631 ;HP:0001642 ;HP:0001669 ;HP:0001685 ;HP:0002084 ;HP:0002093 ;HP:0002126 ;HP:0002267 ;HP:0002350 ;HP:0002365 ;HP:0002650 ;HP:0003202 ;HP:0003236 ;HP:0003306 ;HP:0003593 ;HP:0003741 ;HP:0007260 ;HP:0007348 ;HP:0007973 ;HP:0008981
chr9|108320411|108403399|ENSG00000106692.9|ENSG00000106692.9|FKTN|FKTN|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4)|10570|613152||HP:0000007 ;HP:0001270 ;HP:0003236 ;HP:0003560 ;HP:0003593
chr9|108320411|108403399|ENSG00000106692.9|ENSG00000106692.9|FKTN|FKTN|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)|10571|611588|17044012 ;19342235|HP:0000007 ;HP:0000767 ;HP:0001252 ;HP:0001265 ;HP:0001270 ;HP:0001371 ;HP:0001762 ;HP:0003236 ;HP:0003307 ;HP:0003391 ;HP:0003560 ;HP:0003593 ;HP:0003676 ;HP:0003712 ;HP:0003828
chr9|108320411|108403399|ENSG00000106692.9|ENSG00000106692.9|FKTN|FKTN|Confirmed DD Gene|Biallelic|Loss of function|cardiomyopathy dilated type 1X (CMD1X)|10572|611615|17036286|HP:0000007 ;HP:0001644 ;HP:0003701
chr9|115983808|116028674|ENSG00000136868.9|ENSG00000136868.9|SLC31A1|SLC31A1|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10040||21937992|
chr9|116148597|116163613|ENSG00000148218.11|ENSG00000148218.11|ALAD|ALAD|Both DD and IF|Biallelic|All missense/in frame|Acute Hepatic Porphyria|11789|612740|2063868|HP:0000007 ;HP:0001252 ;HP:0001508 ;HP:0001878 ;HP:0002013 ;HP:0002203 ;HP:0003163 ;HP:0003401 ;HP:0003470 ;HP:0011848
chr9|119449581|119463579|ENSG00000119401.10|ENSG00000119401.10|TRIM32|TRIM32|Confirmed DD Gene|Biallelic|Loss of function|limb-girdle muscular dystrophy type 2H (LGMD2H)|10522|254110|11822024 ;17994549|HP:0000007 ;HP:0001265 ;HP:0001284 ;HP:0002515 ;HP:0003236 ;HP:0003391 ;HP:0003458 ;HP:0003547 ;HP:0003557 ;HP:0003560 ;HP:0003677 ;HP:0003687 ;HP:0003707 ;HP:0003722 ;HP:0003724 ;HP:0003731 ;HP:0003738 ;HP:0003749 ;HP:0003812 ;HP:0008988 ;HP:0010628
chr9|119449581|119463579|ENSG00000119401.10|ENSG00000119401.10|TRIM32|TRIM32|Confirmed DD Gene|Biallelic|Uncertain|Bardet-Biedl syndrome type 11 (BBS11)|11360|209900||HP:0000007 ;HP:0000054 ;HP:0000077 ;HP:0000135 ;HP:0000137 ;HP:0000148 ;HP:0000156 ;HP:0000256 ;HP:0000365 ;HP:0000483 ;HP:0000486 ;HP:0000501 ;HP:0000510 ;HP:0000518 ;HP:0000545 ;HP:0000556 ;HP:0000639 ;HP:0000668 ;HP:0000678 ;HP:0000750 ;HP:0000819 ;HP:0000822 ;HP:0001007 ;HP:0001080 ;HP:0001156 ;HP:0001159 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001263 ;HP:0001328 ;HP:0001395 ;HP:0001513 ;HP:0001712 ;HP:0001773 ;HP:0001829 ;HP:0002099 ;HP:0002141 ;HP:0002167 ;HP:0002251 ;HP:0002370 ;HP:0007707 ;HP:0008734 ;HP:0009466 ;HP:0009806
chr9|123151147|123342448|ENSG00000136861.13|ENSG00000136861.13|CDK5RAP2|CDK5RAP2|Probable DD gene|Biallelic|Loss of function|Primary Autosomal Recessive Microcephaly|11015|279936||
chr9|127243516|127269709|ENSG00000136931.5|ENSG00000136931.5|NR5A1|NR5A1|Both DD and IF|Monoallelic|All missense/in frame|46XY sex reversal 3|10136|612965||HP:0000133 ;HP:0001470 ;HP:0005092
chr9|127243516|127269709|ENSG00000136931.5|ENSG00000136931.5|NR5A1|NR5A1|Both DD and IF|Monoallelic|All missense/in frame|Spermatogenic failure 8|10152|613957||HP:0000007 ;HP:0000027
chr9|129376722|129463311|ENSG00000136944.13|ENSG00000136944.13|LMX1B|LMX1B|Confirmed DD Gene|Monoallelic|Loss of function|nail-patella syndrome (NPS)|10902|161200|18414507 ;9590287 ;10854116 ;9837817 ;9618165|HP:0000006 ;HP:0000083 ;HP:0000093 ;HP:0000099 ;HP:0000100 ;HP:0000175 ;HP:0000204 ;HP:0000407 ;HP:0000482 ;HP:0000501 ;HP:0000508 ;HP:0000518 ;HP:0000563 ;HP:0000767 ;HP:0000790 ;HP:0001032 ;HP:0001377 ;HP:0001598 ;HP:0001762 ;HP:0001763 ;HP:0001798 ;HP:0001807 ;HP:0002414 ;HP:0002650 ;HP:0002938 ;HP:0002999 ;HP:0003997 ;HP:0004209 ;HP:0004322 ;HP:0005255 ;HP:0006424 ;HP:0006437 ;HP:0006443 ;HP:0006633 ;HP:0006650 ;HP:0006657 ;HP:0009760 ;HP:0009780 ;HP:0009781 ;HP:0009783 ;HP:0009785 ;HP:0009788
chr9|130374544|130457460|ENSG00000136854.13|ENSG00000136854.13|STXBP1|STXBP1|Confirmed DD Gene|Monoallelic|Loss of function|epileptic encephalopathy early infantile type 4 (EIEE4)|10513|612164|19557857 ;18469812|HP:0000006 ;HP:0001151 ;HP:0001258 ;HP:0001337 ;HP:0001344 ;HP:0002059 ;HP:0002069 ;HP:0002123 ;HP:0002319 ;HP:0002510 ;HP:0002521 ;HP:0003623 ;HP:0006808 ;HP:0007105 ;HP:0010818 ;HP:0010851 ;HP:0010864 ;HP:0011097 ;HP:0011344
chr9|130374544|130457460|ENSG00000136854.13|ENSG00000136854.13|STXBP1|STXBP1|Confirmed DD Gene|Monoallelic|Loss of function|Nonspecific severe ID|13439|||
chr9|130965658|131017527|ENSG00000106976.14|ENSG00000106976.14|DNM1|DNM1|Possible DD Gene|Monoallelic|Uncertain|Epileptic encephalopathy|13706|||
chr9|131102925|131123749|ENSG00000167114.8|ENSG00000167114.8|SLC27A4|SLC27A4|Confirmed DD Gene|Biallelic|Loss of function|ichthyosis prematurity syndrome|11679|608649||
chr9|131266979|131304567|ENSG00000119392.10|ENSG00000119392.10|GLE1|GLE1|Confirmed DD Gene|Biallelic|All missense/in frame|Arthrogryposis, lethal, with anterior horn cell disease|10157|611890|18204449|HP:0000007 ;HP:0000369 ;HP:0000470 ;HP:0001989 ;HP:0002804 ;HP:0003202 ;HP:0003811 ;HP:0007277
chr9|131314866|131395941|ENSG00000197694.9|ENSG00000197694.9|SPTAN1|SPTAN1|Probable DD gene|Monoallelic|Dominant negative|epileptic encephalopathy early infantile type 5 (EIEE5)|10245|613477|22258530 ;20493457|HP:0000006 ;HP:0000253 ;HP:0001250 ;HP:0001272 ;HP:0002187 ;HP:0002319 ;HP:0002510 ;HP:0002521 ;HP:0003429 ;HP:0003593 ;HP:0003828 ;HP:0010864
chr9|131395940|131419066|ENSG00000119333.7|ENSG00000119333.7|WDR34|WDR34|Confirmed DD Gene|Biallelic|All missense/in frame|Short-Rib Polydactyly Syndrome Type III|13698||24183449|
chr9|131395940|131419066|ENSG00000119333.7|ENSG00000119333.7|WDR34|WDR34|Confirmed DD Gene|Biallelic|All missense/in frame|Severe Asphyxiating Thoracic Dysplasia|13699||24183449|
chr9|131707809|131709898|ENSG00000175283.7|ENSG00000175283.7|DOLK|DOLK|Confirmed DD Gene|Biallelic|All missense/in frame|Congenital Disorders of Glycosylation|10197|610768|17273964 ;22242004|HP:0000007 ;HP:0000535 ;HP:0000653 ;HP:0001250 ;HP:0001252 ;HP:0001508 ;HP:0001522 ;HP:0001644 ;HP:0001985 ;HP:0002521 ;HP:0003160 ;HP:0005484 ;HP:0008064
chr9|133320316|133376661|ENSG00000130707.13|ENSG00000130707.13|ASS1|ASS1|Confirmed DD Gene|Biallelic|Loss of function|Citrullinemia Type I|11847|615700||
chr9|133884469|133969860|ENSG00000050555.13|ENSG00000050555.13|LAMC3|LAMC3|Confirmed DD Gene|Biallelic|Loss of function|occipital cortical malformations|13587|614115|21572413|HP:0000007 ;HP:0001263 ;HP:0002069
chr9|134378289|134399193|ENSG00000130714.11|ENSG00000130714.11|POMT1|POMT1|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1)|10487|613155|16717220 ;11053679|HP:0000007 ;HP:0000158 ;HP:0000252 ;HP:0000519 ;HP:0000545 ;HP:0000556 ;HP:0001263 ;HP:0001321 ;HP:0001344 ;HP:0001371 ;HP:0001638 ;HP:0002280 ;HP:0002319 ;HP:0002540 ;HP:0003236 ;HP:0003560 ;HP:0003593 ;HP:0007033 ;HP:0010628 ;HP:0010864
chr9|134378289|134399193|ENSG00000130714.11|ENSG00000130714.11|POMT1|POMT1|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1)|10621|236670|12369018 ;11320179 ;17878207 ;15037715 ;19299310|HP:0000007 ;HP:0000050 ;HP:0000110 ;HP:0000175 ;HP:0000204 ;HP:0000238 ;HP:0000252 ;HP:0000413 ;HP:0000485 ;HP:0000518 ;HP:0000541 ;HP:0000545 ;HP:0000557 ;HP:0000568 ;HP:0000589 ;HP:0000609 ;HP:0000618 ;HP:0000659 ;HP:0001105 ;HP:0001250 ;HP:0001263 ;HP:0001274 ;HP:0001302 ;HP:0001305 ;HP:0001321 ;HP:0001425 ;HP:0002023 ;HP:0002079 ;HP:0002085 ;HP:0002126 ;HP:0002187 ;HP:0002189 ;HP:0002365 ;HP:0002803 ;HP:0003236 ;HP:0003741 ;HP:0003812 ;HP:0006829 ;HP:0006888 ;HP:0006891 ;HP:0007033 ;HP:0007260 ;HP:0007291 ;HP:0007901 ;HP:0007957 ;HP:0007973 ;HP:0008551 ;HP:0010864
chr9|134378289|134399193|ENSG00000130714.11|ENSG00000130714.11|POMT1|POMT1|Confirmed DD Gene|Biallelic|Loss of function|muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1)|10622|609308|22549409 ;14678799|HP:0000007 ;HP:0000252 ;HP:0001249 ;HP:0001270 ;HP:0001371 ;HP:0001638 ;HP:0002355 ;HP:0002938 ;HP:0003236 ;HP:0003306 ;HP:0003325 ;HP:0003388 ;HP:0003551 ;HP:0003560 ;HP:0003593 ;HP:0003677 ;HP:0003828
chr9|135766735|135820020|ENSG00000165699.9|ENSG00000165699.9|TSC1|TSC1|Confirmed DD Gene|Monoallelic|Loss of function|tuberous sclerosis type 1 (TSC1)|10524|191100|10053179 ;18830229 ;10340649 ;9242607|HP:0000006 ;HP:0000107 ;HP:0000169 ;HP:0000717 ;HP:0000821 ;HP:0000826 ;HP:0000957 ;HP:0001249 ;HP:0001328 ;HP:0001482 ;HP:0001716 ;HP:0002086 ;HP:0002514 ;HP:0002888 ;HP:0003812 ;HP:0005584 ;HP:0006772 ;HP:0007018 ;HP:0009554 ;HP:0009592 ;HP:0009716 ;HP:0009717 ;HP:0009717 ;HP:0009719 ;HP:0009720 ;HP:0009720 ;HP:0009721 ;HP:0009722 ;HP:0009724 ;HP:0009727 ;HP:0009729 ;HP:0009729 ;HP:0009734 ;HP:0010762 ;HP:0011097 ;HP:0200024
chr9|135973107|136039301|ENSG00000160271.10|ENSG00000160271.10|RALGDS|RALGDS|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10037||21937992|
chr9|136218610|136223552|ENSG00000148290.5|ENSG00000148290.5|SURF1|SURF1|Confirmed DD Gene|Biallelic|Loss of function|Leigh Syndrome (nuclear DNA mutation)|11083|256000||HP:0000007 ;HP:0000407 ;HP:0000580 ;HP:0000602 ;HP:0000639 ;HP:0000648 ;HP:0000712 ;HP:0000998 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001257 ;HP:0001260 ;HP:0001263 ;HP:0001332 ;HP:0001347 ;HP:0001404 ;HP:0001425 ;HP:0001427 ;HP:0001508 ;HP:0002093 ;HP:0002151 ;HP:0002171 ;HP:0002171 ;HP:0002490 ;HP:0002793 ;HP:0003128 ;HP:0003593 ;HP:0003676 ;HP:0003812 ;HP:0007305
chr9|136218610|136223552|ENSG00000148290.5|ENSG00000148290.5|SURF1|SURF1|Confirmed DD Gene|Biallelic|Loss of function|Complex IV deficiency|13514|220110||HP:0000007 ;HP:0000093 ;HP:0000124 ;HP:0000407 ;HP:0000508 ;HP:0000580 ;HP:0000648 ;HP:0001249 ;HP:0001250 ;HP:0001251 ;HP:0001252 ;HP:0001270 ;HP:0001410 ;HP:0001427 ;HP:0001508 ;HP:0001639 ;HP:0001903 ;HP:0001994 ;HP:0002151 ;HP:0002240 ;HP:0002490 ;HP:0002747 ;HP:0002875 ;HP:0002880 ;HP:0003076 ;HP:0003109 ;HP:0003128 ;HP:0003355 ;HP:0003546 ;HP:0003688 ;HP:0006565 ;HP:0012240
chr9|138594031|138684992|ENSG00000107147.7|ENSG00000107147.7|KCNT1|KCNT1|Confirmed DD Gene|Monoallelic|All missense/in frame|Severe autosomal dominant nocturnal frontal lobe epilepsy|13471|614959|23086397; 23086396|HP:0000006 ;HP:0000252 ;HP:0000817 ;HP:0001257 ;HP:0001347 ;HP:0002120 ;HP:0002133 ;HP:0002169 ;HP:0002171 ;HP:0002319 ;HP:0002376 ;HP:0002445 ;HP:0002529 ;HP:0003676
chr9|138594031|138684992|ENSG00000107147.7|ENSG00000107147.7|KCNT1|KCNT1|Confirmed DD Gene|Monoallelic|Activating|Malignant migrating partial seizures of infancy|13472||23086397|
chr9|139088096|139096955|ENSG00000107187.11|ENSG00000107187.11|LHX3|LHX3|Confirmed DD Gene|Biallelic|Loss of function|pituitary hormone deficiency combined type 3|10991|221750|10835633 ;17327381 ;18407919|HP:0000007 ;HP:0000407 ;HP:0000470 ;HP:0000824 ;HP:0001249 ;HP:0004322 ;HP:0008213 ;HP:0010627
chr9|139323071|139334274|ENSG00000148384.11|ENSG00000148384.11|INPP5E|INPP5E|Confirmed DD Gene|Biallelic|Loss of function|mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS)|10419|610156|19668215|HP:0000007 ;HP:0000054 ;HP:0000505 ;HP:0000518 ;HP:0000750 ;HP:0001956 ;HP:0002342 ;HP:0007910 ;HP:0008915
chr9|139323071|139334274|ENSG00000148384.11|ENSG00000148384.11|INPP5E|INPP5E|Confirmed DD Gene|Biallelic|Uncertain|Joubert syndrome type 1 (JBTS1)|11328|213300|19668216|HP:0000007 ;HP:0000107 ;HP:0000158 ;HP:0000256 ;HP:0000286 ;HP:0000369 ;HP:0000463 ;HP:0000508 ;HP:0000556 ;HP:0000567 ;HP:0000570 ;HP:0000588 ;HP:0000657 ;HP:0000718 ;HP:0000742 ;HP:0000752 ;HP:0001162 ;HP:0001249 ;HP:0001251 ;HP:0001252 ;HP:0001263 ;HP:0001320 ;HP:0001395 ;HP:0001760 ;HP:0002195 ;HP:0002335 ;HP:0002365 ;HP:0002419 ;HP:0002508 ;HP:0002553 ;HP:0002790 ;HP:0002871 ;HP:0002876 ;HP:0003812 ;HP:0007271 ;HP:0007772 ;HP:0007973 ;HP:0010808 ;HP:0010828 ;HP:0011220 ;HP:0011933 ;HP:0100951 ;HP:0200096
chr9|139388896|139440314|ENSG00000148400.9|ENSG00000148400.9|NOTCH1|NOTCH1|Probable DD gene|Monoallelic|Loss of function|Left Ventricular Outflow Tract Obstruction (LVOTO)|12767|109730|16025100; 16025100|HP:0000006 ;HP:0001647
chr9|139702374|139735639|ENSG00000196642.11|ENSG00000196642.11|RABL6|RABL6|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10008||21937992|
chr9|139981379|140003635|ENSG00000177239.10|ENSG00000177239.10|MAN1B1|MAN1B1|Possible DD Gene|Biallelic|All missense/in frame|Autosomal Recessive Mental Retardation|10031||21937992|
chr9|140032842|140063207|ENSG00000176884.10|ENSG00000176884.10|GRIN1|GRIN1|Possible DD Gene|Monoallelic|All missense/in frame|Epileptic encephalopathy|13607||23934111|
chr9|140086069|140098645|ENSG00000176058.7|ENSG00000176058.7|TPRN|TPRN|Confirmed DD Gene|Biallelic|Loss of function|Deafness, autosomal recessive 79|10725|613307|20170898 ;20170899|HP:0000407 ;HP:0000750
chr9|140513444|140764468|ENSG00000181090.13|ENSG00000181090.13|EHMT1|EHMT1|Confirmed DD Gene|Monoallelic|Loss of function|9q subtelomeric deletion syndrome (9q- syndrome)|10376|610253|16826528 ;19264732|HP:0000006 ;HP:0000028 ;HP:0000047 ;HP:0000054 ;HP:0000158 ;HP:0000232 ;HP:0000248 ;HP:0000252 ;HP:0000272 ;HP:0000280 ;HP:0000303 ;HP:0000316 ;HP:0000365 ;HP:0000377 ;HP:0000463 ;HP:0000582 ;HP:0000664 ;HP:0000695 ;HP:0000717 ;HP:0000718 ;HP:0000722 ;HP:0000733 ;HP:0000741 ;HP:0000750 ;HP:0000792 ;HP:0000954 ;HP:0001249 ;HP:0001250 ;HP:0001252 ;HP:0001513 ;HP:0001710 ;HP:0001762 ;HP:0002020 ;HP:0002205 ;HP:0002360 ;HP:0002786 ;HP:0003745 ;HP:0006335 ;HP:0010806 ;HP:0010808 ;HP:0010864
