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 AHI1 gene AHI1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 3, MIM# 608629" Polydactyly;HP:0010442 False 3 0;0;0 0.281 True ENSG00000135541 ENSG00000135541 HGNC:21575 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937" Polydactyly;HP:0010442 False 3 0;0;0 0.281 True ENSG00000117020 ENSG00000117020 HGNC:393 ARL6 gene ARL6 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Polydactyly;HP:0010442 15258860;32361989;31888296;25402481 False 3 100;0;0 0.281 True ENSG00000113966 ENSG00000113966 HGNC:13210 B9D2 gene B9D2 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, MIM#614175;Meckel syndrome 10, MIM#614175 Polydactyly;HP:0010442 26092869;21763481 False 3 100;0;0 0.281 True ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Bardet-Biedl syndrome 1, MIM# 209900" Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 Polydactyly;HP:0010442 12016587;11381270 False 3 100;0;0 0.281 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Polydactyly;HP:0010442 19252258;15137946;10053027;15637713 False 3 100;0;0 0.281 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 Polydactyly;HP:0010442 12567324;21937992;19797195 False 3 100;0;0 0.281 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 Polydactyly;HP:0010442 16380913;22353939;32686083;32037757 False 3 100;0;0 0.281 True ENSG00000122507 ENSG00000122507 HGNC:30000 BHLHA9 gene BHLHA9 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 Polydactyly;HP:0010442 25466284;34272776;31912643;31152918;30107244 False 3 100;0;0 0.281 True ENSG00000205899 ENSG00000205899 HGNC:35126 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000125378 ENSG00000125378 HGNC:1071 C2CD3 gene C2CD3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;MONDO:0013824;Orofaciodigital syndrome VI, MIM# 277170 Polydactyly;HP:0010442 22425360;24178751 False 3 100;0;0 0.281 True ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCND2 gene CCND2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000118971 ENSG00000118971 HGNC:1583 CENPF gene CENPF Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP120 gene CEP120 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Polydactyly;HP:0010442 25361962;27208211 False 3 100;0;0 0.281 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP164 gene CEP164 Expert list;Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome Polydactyly;HP:0010442 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 0.281 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000106477 ENSG00000106477 HGNC:12370 CKAP2L gene CKAP2L Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000169607 ENSG00000169607 HGNC:26877 CSPP1 gene CSPP1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Polydactyly;HP:0010442 24360808;24360803;24360807;25997910 False 3 100;0;0 0.281 True ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V (MIM#174300) Polydactyly;HP:0010442 29127725;23972372;28711741 False 3 100;0;0 0.281 True ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome - MIM#270400 Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000172893 ENSG00000172893 HGNC:2860 DYNC2H1 gene DYNC2H1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127 Polydactyly;HP:0010442 19442771;19361615;22499340;23456818;27925158 False 3 100;0;0 0.281 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Polydactyly;HP:0010442 33030252 False 3 100;0;0 0.281 True ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green;Victorian Clinical Genetics Services Polydactyly 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) Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000147155 ENSG00000147155 HGNC:3133 EVC gene EVC Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000173040 ENSG00000173040 HGNC:19747 FGF10 gene FGF10 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGFR1 gene FGFR1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000068078 ENSG00000068078 HGNC:3690 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000150893 ENSG00000150893 HGNC:25396 GDF5 gene GDF5 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000125965 ENSG00000125965 HGNC:4220 GLI1 gene GLI1 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly, postaxial, type A8 MIM#618123;Polydactyly, preaxial I MIM#174400 Polydactyly;HP:0010442 34721536;31621941;31549748;30620395 False 3 100;0;0 0.281 True ENSG00000111087 ENSG00000111087 HGNC:4317 GLI2 gene GLI2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome, MIM# 175700;Pallister-Hall syndrome, MIM# 146510;Polydactyly, postaxial, types A1 and B, MIM# 174200;Polydactyly, preaxial, type IV, MIM# 174700 Polydactyly;HP:0010442 32591344 False 3 100;0;0 0.281 True ENSG00000106571 ENSG00000106571 HGNC:4319 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000155974 ENSG00000155974 HGNC:18708 HMGB1 gene HMGB1 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Polydactyly;HP:0010442 34159400;36755093 False 3 100;0;0 0.281 True ENSG00000189403 ENSG00000189403 HGNC:4983 HNRNPK gene HNRNPK Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000165119 ENSG00000165119 HGNC:5044 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXD13 gene HOXD13 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Synpolydactyly 1, MIM# 186000" Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000128714 ENSG00000128714 HGNC:5136 ICK gene ICK Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, MIM# 612651 Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000112144 ENSG00000112144 HGNC:21219 IFT140 gene IFT140 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Polydactyly;HP:0010442 22503633;23418020;28288023;28724397 False 3 100;0;0 0.281 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Polydactyly;HP:0010442 26880018;27466190;30242358;31042281 False 3 100;0;0 0.281 True ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000068885 ENSG00000068885 HGNC:29262 INPP5E gene INPP5E Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000148384 ENSG00000148384 HGNC:21474 IQCE gene IQCE Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Postaxial polydactyly Polydactyly;HP:0010442 31549751;28488682 False 3 100;0;0 0.281 True ENSG00000106012 ENSG00000106012 HGNC:29171 KIAA0586 gene KIAA0586 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0825 gene KIAA0825 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Polydactyly, postaxial, type A10, MIM# 618498" Polydactyly;HP:0010442 32147526;30982135 False 3 100;0;0 0.281 True ENSG00000185261 ENSG00000185261 HGNC:28532 KIF7 gene KIF7 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000166813 ENSG00000166813 HGNC:30497 LBR gene LBR Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Greenberg skeletal dysplasia, MIM# 215140" Polydactyly;HP:0010442 False 3 0;0;0 0.281 True ENSG00000143815 ENSG00000143815 HGNC:6518 LEF1 gene LEF1 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, LEF1-related Polydactyly;HP:0010442 35583550 False 3 100;0;0 0.281 True ENSG00000138795 ENSG00000138795 HGNC:6551 LMBR1 gene LMBR1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polydactyly, preaxial type II, MIM# 174500" Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000105983 ENSG00000105983 HGNC:13243 LZTFL1 gene LZTFL1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAP3K20 gene MAP3K20 Expert list;Expert Review Green Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Split-foot malformation with mesoaxial polydactyly MIM#616890 Polydactyly;HP:0010442 26755636;32266845 False 3 100;0;0 0.281 True ENSG00000091436 ENSG00000091436 HGNC:17797 MAPKAPK5 gene MAPKAPK5 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurocardiofaciodigital syndrome, MIM# 619869 Polydactyly;HP:0010442 33442026 False 3 100;0;0 0.281 True ENSG00000089022 ENSG00000089022 HGNC:6889 MAX gene MAX Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly-macrocephaly syndrome, MIM# 620712 Polydactyly;HP:0010442 38141607 False 3 100;0;0 0.281 True ENSG00000125952 ENSG00000125952 HGNC:6913 MBTPS2 gene MBTPS2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000012174 ENSG00000012174 HGNC:15455 MEGF8 gene MEGF8 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000105429 ENSG00000105429 HGNC:3233 MKKS gene MKKS Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 100;0;0 0.281 False ENSG00000011143 ENSG00000011143 HGNC:7121 MYCN gene MYCN Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polydactyly syndrome, MIM# 620748 Polydactyly;HP:0010442 PMID:37710961 False 3 100;0;0 0.281 True Other ENSG00000134323 ENSG00000134323 HGNC:7559 NEK1 gene NEK1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Polydactyly;HP:0010442 21211617;22499340 False 3 100;0;0 0.281 True ENSG00000137601 ENSG00000137601 HGNC:7744 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000113971 ENSG00000113971 HGNC:7907 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly 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) Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000046651 ENSG00000046651 HGNC:2567 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes Other Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501 Polydactyly;HP:0010442 False 3 0;0;0 0.281 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000105647 ENSG00000105647 HGNC:8980 PITX1 gene PITX1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000069011 ENSG00000069011 HGNC:9004 PORCN gene PORCN Expert Review Green;Victorian Clinical Genetics Services Polydactyly 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) Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000102312 ENSG00000102312 HGNC:17652 PRKACA gene PRKACA Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 1, MIM# 619142;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability Polydactyly;HP:0010442 33058759;31130284 False 3 100;0;0 0.281 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, MIM# 619143;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability Polydactyly;HP:0010442 33058759 False 3 100;0;0 0.281 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142875 ENSG00000142875 HGNC:9381 RAB23 gene RAB23 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB34 gene RAB34 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Polydactyly;HP:0010442 37619988;37384395 False 3 100;0;0 0.281 True ENSG00000109113 ENSG00000109113 HGNC:16519 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000182872 ENSG00000182872 HGNC:9896 RPGRIP1L gene RPGRIP1L Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000103494 ENSG00000103494 HGNC:29168 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000101115 ENSG00000101115 HGNC:15924 SC5D gene SC5D Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCNM1 gene SCNM1 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, MIM# 620107 Polydactyly;HP:0010442 36084634 False 3 100;0;0 0.281 True ENSG00000163156 ENSG00000163156 HGNC:23136 SHH gene SHH Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000164690 ENSG00000164690 HGNC:10848 SMO gene SMO Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Microcephaly, congenital heart disease, polydactyly, aganglionosis;Pallister-Hall-like syndrome , MIM#241800;Curry-Jones syndrome, somatic mosaic 601707" Polydactyly;HP:0010442 32413283;27236920 False 3 100;0;0 0.281 True ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000198732 ENSG00000198732 HGNC:20318 SPINT2 gene SPINT2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420;MONDO:0010036 Polydactyly;HP:0010442 19185281;20009592;24142340;30445423 False 3 100;0;0 0.281 True ENSG00000167642 ENSG00000167642 HGNC:11247 TBX3 gene TBX3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX5 gene TBX5 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000089225 ENSG00000089225 HGNC:11604 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Polydactyly;HP:0010442 26044572;25830415 False 3 100;0;0 0.281 True ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN2 gene TCTN2 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 Polydactyly;HP:0010442 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 3 100;0;0 0.281 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000008196 ENSG00000008196 HGNC:11743 TMEM107 gene TMEM107 Expert list;Expert Review Green Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 MIM#617562;Orofaciodigital syndrome XVI MIM#617563 Polydactyly;HP:0010442 22698544;26123494;26518474 False 3 100;0;0 0.281 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Polydactyly;HP:0010442 22152675 False 3 100;0;0 0.281 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 Polydactyly;HP:0010442 26487268;18364699;21945076 False 3 100;0;0 0.281 True ENSG00000204104 ENSG00000204104 HGNC:17861 TTC21B gene TTC21B Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Polydactyly;HP:0010442 14520415;19797195 False 3 100;0;0 0.281 True ENSG00000165533 ENSG00000165533 HGNC:20087 TWIST1 gene TWIST1 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow-Sorauf syndrome, MIM# 180750 Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000122691 ENSG00000122691 HGNC:12428 UBE3B gene UBE3B Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;MONDO:0009485 Polydactyly;HP:0010442 23200864;23200864;34012380;32949109 False 3 100;0;0 0.281 True ENSG00000151148 ENSG00000151148 HGNC:13478 USP9X gene USP9X Expert Review Green;Victorian Clinical Genetics Services Polydactyly 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) Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000124486 ENSG00000124486 HGNC:12632 WDPCP gene WDPCP Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Polydactyly;HP:0010442 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 0.281 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, MIM#613610;MONDO:0013323;Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569 Polydactyly;HP:0010442 33421337;29134781;28870638;26691894;24027799;21473986 False 3 100;0;0 0.281 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503;Retinitis pigmentosa Polydactyly;HP:0010442 23910462;29271569;26874042 False 3 100;0;0 0.281 True ENSG00000126870 ENSG00000126870 HGNC:21862 WNT7A gene WNT7A Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Santos syndrome, MIM# 613005;Fuhrmann syndrome 228930 Polydactyly;HP:0010442 False 3 100;0;0 0.281 True ENSG00000154764 ENSG00000154764 HGNC:12786 ZRSR2 gene ZRSR2 Expert Review Green;Literature Polydactyly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Polydactyly;HP:0010442 38158857 False 3 100;0;0 0.281 True ENSG00000169249 ENSG00000169249 HGNC:23019 ZSWIM6 gene ZSWIM6 Expert Review Green;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;HP:0010442 False 3 0;0;0 0.281 False ENSG00000130449 ENSG00000130449 HGNC:29316 CD96 gene CD96 Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C syndrome, MIM#211750 Polydactyly;HP:0010442 17847009 False 2 0;100;0 0.281 True ENSG00000153283 ENSG00000153283 HGNC:16892 EFCAB7 gene EFCAB7 Expert Review Amber;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly (MONDO:0021003), EFCAB7-related Polydactyly;HP:0010442 PMID: 37684519 False 2 0;100;0 0.281 True ENSG00000203965 ENSG00000203965 HGNC:29379 FAM92A gene FAM92A Expert list;Expert Review Amber Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Polydactyly, postaxial, type A9, MIM# 618219" Polydactyly;HP:0010442 30395363 False 2 0;100;0 0.281 True ENSG00000188343 ENSG00000188343 HGNC:30452 HYLS1 gene HYLS1 Expert Review Amber;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680) Polydactyly;HP:0010442 15843405;18648327;19400947;19656802;32509774;26830932 False 2 0;100;0 0.281 True ENSG00000198331 ENSG00000198331 HGNC:26558 PDE6D gene PDE6D Expert Review Amber;Victorian Clinical Genetics Services Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 Polydactyly;HP:0010442 24166846;30423442 False 2 0;100;0 0.281 True ENSG00000156973 ENSG00000156973 HGNC:8788 SLC30A7 gene SLC30A7 Expert Review Amber;Literature Polydactyly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Joubert syndrome (MONDO:0018772), SLC30A7-related Polydactyly;HP:0010442 PMID: 35751429 False 2 0;100;0 0.281 True ENSG00000162695 ENSG00000162695 HGNC:19306 TOPORS gene TOPORS Expert Review Amber;Literature Polydactyly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MONDO:0005308;ciliopathy;postaxial polydactyly;multiple lingual hamartomas;dysmorphic features Polydactyly;HP:0010442 34132027 False 2 0;100;0 0.281 True ENSG00000197579 ENSG00000197579 HGNC:21653