Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ALX3 gene ALX3 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1, MIM# 136760;Frontorhiny 19409524;22106187;19401770 False 2 0;100;0 0.260 True ENSG00000156150 ENSG00000156150 HGNC:449 ANKRD17 gene ANKRD17 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chopra-Amiel-Gordan syndrome, MIM# 619504;Intellectual disability;dysmorphic features 33909992 False 2 0;100;0 0.260 True ENSG00000132466 ENSG00000132466 HGNC:23575 ARHGEF38 gene ARHGEF38 Expert Review Amber;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip/palate MONDO:0016044, ARHGEF38-related 36493769 False 2 0;100;0 0.260 True ENSG00000236699 ENSG00000236699 HGNC:25968 ARID1A gene ARID1A Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 2 (MIM#614607) 25168959;37010288 False 2 0;100;0 0.260 True ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, OMIM:135900 30349098;37010288 False 2 0;100;0 0.260 True ENSG00000049618 ENSG00000049618 HGNC:18040 ATR gene ATR Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown SECKEL SYNDROME 1;SCKL1 False 2 0;0;0 0.260 False ENSG00000175054 ENSG00000175054 HGNC:882 AUTS2 gene AUTS2 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 31788251;37010288 False 2 0;100;0 0.260 True ENSG00000158321 ENSG00000158321 HGNC:14262 B3GALT6 gene B3GALT6 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES;Ehlers-Danlos syndrome, progeroid type, 2 615349;SEMDJL1 False 2 0;0;0 0.260 False ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT7 gene B4GALT7 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 24755949 False 2 0;100;0 0.260 True ENSG00000027847 ENSG00000027847 HGNC:930 BUB1B gene BUB1B Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MVA1;MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 False 2 0;0;0 0.260 False ENSG00000156970 ENSG00000156970 HGNC:1149 CDC45 gene CDC45 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7, 617063;MGORS7 27374770 False 2 0;0;0 0.260 False ENSG00000093009 ENSG00000093009 HGNC:1739 CHD4 gene CHD4 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sifrim-Hitz-Weiss syndrome, MIM 617159 31388190;37010288 False 2 0;100;0 0.260 True ENSG00000111642 ENSG00000111642 HGNC:1919 COBLL1 gene COBLL1 Expert Review Amber;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip/palate MONDO:0016044, COBLL1-related 36493769 False 2 0;100;0 0.260 True ENSG00000082438 ENSG00000082438 HGNC:23571 COL9A2 gene COL9A2 Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 21671392;31090205;33356723 False 2 0;100;0 0.260 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Amber;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type VI, MIM# 620022 24273071;30450842;31090205;20301479 False 2 0;100;0 0.260 True ENSG00000092758 ENSG00000092758 HGNC:2219 CRELD1 gene CRELD1 Expert Review Amber;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 37947183 False 2 0;100;0 0.260 True ENSG00000163703 ENSG00000163703 HGNC:14630 DDX3X gene DDX3X Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MRX102;MENTAL RETARDATION, X-LINKED 102 False 2 0;0;0 0.260 False ENSG00000215301 ENSG00000215301 HGNC:2745 DDX59 gene DDX59 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME V;OFD5 False 2 0;0;0 0.260 False ENSG00000118197 ENSG00000118197 HGNC:25360 EDN1 gene EDN1 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Auriculocondylar syndrome 3, MIM# 615706;Cleft palate 23315542;23913798 False 2 0;100;0 0.260 True ENSG00000078401 ENSG00000078401 HGNC:3176 ESRP2 gene ESRP2 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cleft lip 29805042 False 2 0;100;0 0.260 True ENSG00000103067 ENSG00000103067 HGNC:26152 FBRSL1 gene FBRSL1 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malformation and intellectual disability syndrome;Cleft palate 32424618 False 2 0;100;0 0.260 True ENSG00000112787 ENSG00000112787 HGNC:29308 FBXO11 gene FBXO11 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089;cleft lip 17035249;30057029;30679813 False 2 0;100;0 0.260 True ENSG00000138081 ENSG00000138081 HGNC:13590 FGFR3 gene FGFR3 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muenke syndrome, OMIM:602849;Hypochondroplasia, OMIM:146000 22565872;29150894;37010288 False 2 0;100;0 0.260 True ENSG00000068078 ENSG00000068078 HGNC:3690 FTO gene FTO Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Growth retardation, developmental delay, facial dysmorphism, 612938;Lethal polymalformative syndrome, Boissel type 26378117;19559399 False 2 0;0;0 0.260 False ENSG00000140718 ENSG00000140718 HGNC:24678 GATA3 gene GATA3 Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HDR syndrome;Barakat syndrome;Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 10935639;11389161;28303854;21834031;19659764 False 2 0;0;0 0.260 False ENSG00000107485 ENSG00000107485 HGNC:4172 IFT52 gene IFT52 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY;SRTD16 False 2 0;0;0 0.260 False ENSG00000101052 ENSG00000101052 HGNC:15901 KAT5 gene KAT5 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103 PMID: 32822602 False 2 0;100;0 0.260 True ENSG00000172977 ENSG00000172977 HGNC:5275 KDM1A gene KDM1A Expert Review Amber;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate,psychomotor retardation,distinctive facial features, 616728 23020937;24838796;26656649 False 2 0;0;0 0.260 False ENSG00000004487 ENSG00000004487 HGNC:29079 KMT2A gene KMT2A Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome, OMIM:605130 25929198;30305169;31710778;37010288 False 2 0;100;0 0.260 True ENSG00000118058 ENSG00000118058 HGNC:7132 LMNA gene LMNA Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal RESTRICTIVE DERMOPATHY, LETHAL False 2 0;0;0 0.260 False ENSG00000160789 ENSG00000160789 HGNC:6636 LRP6 gene LRP6 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip;cleft palate;tooth agenesis;oligodontia PMID: 29500247, 26963285 False 2 0;100;0 0.260 True ENSG00000070018 ENSG00000070018 HGNC:6698 LRRC32 gene LRRC32 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 PMID: 30976112 False 2 0;100;0 0.260 True ENSG00000137507 ENSG00000137507 HGNC:4161 MED13L gene MED13L Expert Review Amber;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation and distinctive facial features with or without cardiac defects, 616789;Cleft palate;MRFACD 25712080;25137640 False 2 0;100;0 0.260 True ENSG00000123066 ENSG00000123066 HGNC:22962 MED25 gene MED25 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME;BVSYS 25792360 False 2 0;0;0 0.260 False ENSG00000104973 ENSG00000104973 HGNC:28845 MEOX1 gene MEOX1 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE;KFS2 23290072;24073994 False 2 0;0;0 0.260 False ENSG00000005102 ENSG00000005102 HGNC:7013 MN1 gene MN1 Expert Review Amber;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cleft palate;CEBALID syndrome, MIM# 618774" 33351141;31834374;33351070 False 2 0;100;0 0.260 True Other ENSG00000169184 ENSG00000169184 HGNC:7180 NOTCH2 gene NOTCH2 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hajdu-Cheney syndrome, OMIM:102500 9188663;30329210;37010288 False 2 0;100;0 0.260 True ENSG00000134250 ENSG00000134250 HGNC:7882 PHGDH gene PHGDH Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal NEU-LAXOVA SYNDROME 1;NLS1 25152457;24836451 False 2 0;0;0 0.260 False ENSG00000092621 ENSG00000092621 HGNC:8923 PLCH1 gene PLCH1 Expert Review Amber;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 14, MIM# 619895 33820834 False 2 0;100;0 0.260 True ENSG00000114805 ENSG00000114805 HGNC:29185 PLEKHA5 gene PLEKHA5 Expert list;Expert Review Amber;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip and palate 29805042 False 2 50;50;0 0.260 True ENSG00000052126 ENSG00000052126 HGNC:30036 PLEKHA7 gene PLEKHA7 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip and palate 29805042 False 2 0;100;0 0.260 True ENSG00000166689 ENSG00000166689 HGNC:27049 POGZ gene POGZ Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Sutton syndrome, MIM# 616364 26942287;26739615 False 2 0;100;0 0.260 True ENSG00000143442 ENSG00000143442 HGNC:18801 RARB gene RARB Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA, SYNDROMIC 12;MCOPS12 False 2 0;0;0 0.260 False ENSG00000077092 ENSG00000077092 HGNC:9865 RBPJ gene RBPJ Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 28160419;22883147 False 2 0;0;0 0.260 False ENSG00000168214 ENSG00000168214 HGNC:5724 RPL11 gene RPL11 Expert list;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM# 612562;Cleft palate False 2 0;100;0 0.260 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPS28 gene RPS28 Expert Review Amber;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164;Cleft palate 24942156 False 2 0;100;0 0.260 True ENSG00000233927 ENSG00000233927 HGNC:10418 SCUBE3 gene SCUBE3 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184 33308444 False 2 0;100;0 0.260 True ENSG00000146197 ENSG00000146197 HGNC:13655 SEC23A gene SEC23A Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CLSD;CRANIOLENTICULOSUTURAL DYSPLASIA False 2 0;0;0 0.260 False ENSG00000100934 ENSG00000100934 HGNC:10701 SEPT9 gene SEPT9 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HNA;Amyotrophy, hereditary neuralgic, MIM# 162100 16186812;19451530;19939853;19139049;18492087 False 2 0;100;0 0.260 True ENSG00000184640 ENSG00000184640 HGNC:7323 SHROOM3 gene SHROOM3 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Anencephaly;cleft lip and palate 32621286 False 2 0;100;0 0.260 True ENSG00000138771 ENSG00000138771 HGNC:30422 SMARCB1 gene SMARCB1 Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3, OMIM:614608 25168959;37010288 False 2 0;100;0 0.260 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMG9 gene SMG9 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal HBMS;HEART AND BRAIN MALFORMATION SYNDROME 27018474 False 2 0;0;0 0.260 False ENSG00000105771 ENSG00000105771 HGNC:25763 TBX15 gene TBX15 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal COUSIN SYNDROME False 2 0;0;0 0.260 False ENSG00000092607 ENSG00000092607 HGNC:11594 TTC21B gene TTC21B Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY;SRTD4 False 2 0;0;0 0.260 False ENSG00000123607 ENSG00000123607 HGNC:25660 UBE3B gene UBE3B Expert Review;Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, OMIM:244450 23200864;23687348;37010288 False 2 0;100;0 0.260 True ENSG00000151148 ENSG00000151148 HGNC:13478 WDR19 gene WDR19 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SRTD5;SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY False 2 0;0;0 0.260 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SRTD11;SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY False 2 0;0;0 0.260 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY;SRTD7 False 2 0;0;0 0.260 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SRTD8;SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY False 2 0;0;0 0.260 False ENSG00000126870 ENSG00000126870 HGNC:21862 ZMPSTE24 gene ZMPSTE24 Expert Review Amber Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal RESTRICTIVE DERMOPATHY, LETHAL False 2 0;0;0 0.260 False ENSG00000084073 ENSG00000084073 HGNC:12877