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 ACVR1 gene ACVR1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva 135100 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 30071989;19085907;26776312;18684712;23572558;20463014 False 3 100;0;0 0.76 True ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, 277600 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome type 4 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;100 0.76 False ENSG00000140470 ENSG00000140470 HGNC:17109 AFF4 gene AFF4 Expert list;Expert Review Green;Other;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHOPS syndrome MIM#616368 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000072364 ENSG00000072364 HGNC:17869 ANKRD11 gene ANKRD11 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome 148050 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000167522 ENSG00000167522 HGNC:21316 ARHGAP31 gene ARHGAP31 Expert list;Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1 100300 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 21565291;24668619;29924900 False 3 50;50;0 0.76 True ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1A gene ARID1A Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome type 1 - 135900 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000049618 ENSG00000049618 HGNC:18040 B3GLCT gene B3GLCT Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Peters-plus syndrome 261540 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000187676 ENSG00000187676 HGNC:20207 BMP2 gene BMP2 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type A2 112600;short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMPR1B gene BMPR1B Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type 609441;Brachydactyly, type A1, D 616849;Brachydactyly, type A2 112600 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000138696 ENSG00000138696 HGNC:1077 CACNA1C gene CACNA1C Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Timothy syndrome MIM#601005 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000151067 ENSG00000151067 HGNC:1390 CDH3 gene CDH3 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000062038 ENSG00000062038 HGNC:1762 CHSY1 gene CHSY1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000131873 ENSG00000131873 HGNC:17198 CREBBP gene CREBBP Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 180849 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000005339 ENSG00000005339 HGNC:2348 DHCR7 gene DHCR7 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Miller syndrome (postaxial acrofacial dysostosis) 263750 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000102967 ENSG00000102967 HGNC:2867 DLL4 gene DLL4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 6, 616589 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 26299364;33899511;31261205;29924900 False 3 100;0;0 0.76 True ENSG00000128917 ENSG00000128917 HGNC:2910 DLX5 gene DLX5 Expert list;Expert Review Green;NHS GMS Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000105880 ENSG00000105880 HGNC:2918 DOCK6 gene DOCK6 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2 614219 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000130158 ENSG00000130158 HGNC:19189 DPF2 gene DPF2 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 7 MIM#618027 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 True ENSG00000133884 ENSG00000133884 HGNC:9964 DVL1 gene DVL1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Robinow syndrome, autosomal dominant 2, MIM# 616331 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYNC1I1 gene DYNC1I1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 22914741;25231166;32219838 False 3 100;0;0 0.76 True ENSG00000158560 ENSG00000158560 HGNC:2963 EOGT gene EOGT Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adams Oliver syndrome 4 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 180849 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 True ENSG00000100393 ENSG00000100393 HGNC:3373 ESCO2 gene ESCO2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SC phocomelia syndrome 269000;Roberts syndrome 268300 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000171320 ENSG00000171320 HGNC:27230 FAM58A gene FAM58A Expert list;Expert Review Green Hand and foot malformations 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) STAR syndrome 300707 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False - ENSG00000262919 HGNC:28434 FAT1 gene FAT1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal facial dysmorphism;colobomatous microphthalmia;ptosis;syndactyly with or without nephropathy Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 30862798 False 3 100;0;0 0.76 True ENSG00000083857 ENSG00000083857 HGNC:3595 FBN1 gene FBN1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome 154700;Weill-Marchesani syndrome 2, dominant 608328;Stiff skin syndrome 184900;Acromicric dysplasia 102370;Geleophysic dysplasia 2 614185 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000166147 ENSG00000166147 HGNC:3603 FGF9 gene FGF9 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome type 3 612961 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000102678 ENSG00000102678 HGNC:3687 FIG4 gene FIG4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome 216340;Amyotrophic lateral sclerosis 11 612577 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLNA gene FLNA Expert list;Expert Review Green Hand and foot malformations 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) Osteodysplasty Melnick Needles 309350 XLD;Otopalatodigital syndrome, type II 304120 XLD;Frontometaphyseal dysplasia 305620;Terminal osseous dysplasia 300244;Otopalatodigital syndrome, type I -311300 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR1 gene FLVCR1 Expert Review Green;Literature Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 39306721 False 3 100;0;0 0.76 True ENSG00000162769 ENSG00000162769 HGNC:24682 FZD2 gene FZD2 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant omodysplasia 164745;Autosomal dominant omodysplasia type 2 164745 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000180340 ENSG00000180340 HGNC:4040 GDF5 gene GDF5 Expert Review Green;Literature Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type A1, C, MIM# 615072;Brachydactyly, type A2 MIM#112600;Brachydactyly, type C, MIM# 113100;Symphalangism, proximal, 1B, MIM# 615298 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 9288091;16127465;12567410 False 3 100;0;0 0.76 True ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome type 4 - 617898.;Klippel-Feil syndrome 1, autosomal dominant 118100 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 50;0;50 0.76 False ENSG00000156466 ENSG00000156466 HGNC:4221 GJA1 gene GJA1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoplastic left heart syndrome 1 241550;Syndactyly, type III 186100;Oculodentodigital dysplasia 164200;Palmoplantar keratoderma with congenital alopecia 104100;Craniometaphyseal dysplasia, autosomal recessive 218400;Erythrokeratodermia variabilis et progressiva 133200;Oculodentodigital dysplasia, autosomal recessive 257850 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000152661 ENSG00000152661 HGNC:4274 GNAS gene GNAS Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) McCune-Albright syndrome, somatic, mosaic 174800;ACTH-independent macronodular adrenal hyperplasia 219080 IC;Osseous heteroplasia, progressive 166350;Pseudohypoparathyroidism Ic 612462;Pseudopseudohypoparathyroidism 612463;Pseudohypoparathyroidism Ia 103580;Pseudohypoparathyroidism Ib 603233 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000087460 ENSG00000087460 HGNC:4392 GSC gene GSC Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000133937 ENSG00000133937 HGNC:4612 HDAC8 gene HDAC8 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations 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) Wilson-Turner syndrome 309585;Cornelia de Lange syndrome 5 300882 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000147099 ENSG00000147099 HGNC:13315 HOXD13 gene HOXD13 Expert Review Green;Literature Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200;Syndactyly, type V, MIM# 186300;Synpolydactyly 1, MIM# 186000;Brachydactyly-syndactyly syndrome, MIM# 610713 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 12649808;17236141;34777468;32509852 False 3 100;0;0 0.76 True ENSG00000128714 ENSG00000128714 HGNC:5136 IHH gene IHH Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type A1 112500;Acrocapitofemoral dysplasia 607778 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000163501 ENSG00000163501 HGNC:5956 KDM6A gene KDM6A Expert list;Expert Review Green Hand and foot malformations 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) Kabuki syndrome 2 MIM#300867 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 33674768 False 3 100;0;0 0.76 True ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2A gene KMT2A Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome MIM#605130 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 22795537;24886118 False 3 100;0;0 0.76 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2D gene KMT2D Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1 - 147920 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000167548 ENSG00000167548 HGNC:7133 LRP4 gene LRP4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 2 614305;Cenani-Lenz syndactyly syndrome 212780 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000134569 ENSG00000134569 HGNC:6696 LTBP3 gene LTBP3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Geleophysic dysplasia 3 617809;Dental anomalies and short stature 610216 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000168056 ENSG00000168056 HGNC:6716 MGP gene MGP Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Keutel syndrome 245150 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000111341 ENSG00000111341 HGNC:7060 MYCN gene MYCN Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polydactyly syndrome, MIM# 620748;Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 True ENSG00000134323 ENSG00000134323 HGNC:7559 NECTIN1 gene NECTIN1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000143217 ENSG00000143217 HGNC:19688 NIPBL gene NIPBL Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOG gene NOG Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stapes ankylosis with broad thumb and toes 184460;Symphalangism, proximal, 1A 185800;Multiple synostoses syndrome 1 186500;Tarsal-carpal coalition syndrome 186570;Brachydactyly, type B2 611377 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH1 gene NOTCH1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Limb, scalp and skull defects;AOS;Adams-Oliver syndrome 5, 616028;Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000148400 ENSG00000148400 HGNC:7881 NSDHL gene NSDHL Expert list;Expert Review Green;NHS GMS Hand and foot malformations 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) CK syndrome 300831;Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000147383 ENSG00000147383 HGNC:13398 NXN gene NXN Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 2 MIM#618529 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 29276006 False 3 100;0;0 0.76 True ENSG00000167693 ENSG00000167693 HGNC:18008 PDE3A gene PDE3A Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, 112410 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance 614613 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000113448 ENSG00000113448 HGNC:8783 PGM3 gene PGM3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 615816 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHF6 gene PHF6 Expert list;Expert Review Green Hand and foot malformations 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) Borjeson-Forssman-Lehmann syndrome MIM#301900 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 19161141;24092917;12415272 False 3 100;0;0 0.76 True ENSG00000156531 ENSG00000156531 HGNC:18145 PIGV gene PIGV Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000060642 ENSG00000060642 HGNC:26031 POLR1A gene POLR1A Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type 616462 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000068654 ENSG00000068654 HGNC:17264 PRKAR1A gene PRKAR1A Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myxoma, intracardiac 255960;Acrodysostosis 1, with or without hormone resistance 101800;Pigmented nodular adrenocortical disease, primary, 1 610489 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000108946 ENSG00000108946 HGNC:9388 PRMT7 gene PRMT7 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000132600 ENSG00000132600 HGNC:25557 PTDSS1 gene PTDSS1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism 151050 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTHLH gene PTHLH Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type E2 613382 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000087494 ENSG00000087494 HGNC:9607 RAD21 gene RAD21 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4 614701 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 31334757;31704779 False 3 100;0;0 0.76 True ENSG00000164754 ENSG00000164754 HGNC:9811 RBM8A gene RBM8A Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome 274000 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, 614814 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome 268400;RAPILINO syndrome 266280;Baller-Gerold syndrome 218600 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000160957 ENSG00000160957 HGNC:9949 ROR2 gene ROR2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 268310;Brachydactyly, type B1 113000 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000169071 ENSG00000169071 HGNC:10257 SF3B4 gene SF3B4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type 154400 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000143368 ENSG00000143368 HGNC:10771 SMAD4 gene SMAD4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome 139210 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nicolaides-Baraitser syndrome MIM#601358 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 26468571;32694869 False 3 100;0;0 0.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 4 MIM#614609 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 22426308 False 3 100;0;0 0.76 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3 MIM#614608 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 22426308;25169878 False 3 100;0;0 0.76 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 5 MIM#616938 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 22426308;25169878;34205270 False 3 100;0;0 0.76 True ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations 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) Cornelia de Lange syndrome 2 300590 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3 610759 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000108055 ENSG00000108055 HGNC:2468 SOST gene SOST Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Van Buchem disease 239100;Sclerosteosis 1 269500;Craniodiaphyseal dysplasia, autosomal dominant 122860 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX9 gene SOX9 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia with autosomal sex reversal 114290 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000125398 ENSG00000125398 HGNC:11204 TBX15 gene TBX15 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cousin syndrome 260660 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000092607 ENSG00000092607 HGNC:11594 TGDS gene TGDS Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome 616145 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 25480037 False 3 100;0;0 0.76 True ENSG00000088451 ENSG00000088451 HGNC:20324 TP63 gene TP63 Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hay-Wells syndrome 106260;Rapp-Hodgkin syndrome 129400;Limb-mammary syndrome 603543;Split-hand/foot malformation 4 605289;Orofacial cleft 8 129400;ULT syndrome 103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRPS1 gene TRPS1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type III 190351;Trichorhinophalangeal syndrome, type I 190350 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parastremmatic dwarfism 168400;Metatropic dysplasia 156530;Spinal muscular atrophy, distal, congenital nonprogressive 600175;Scapuloperoneal spinal muscular atrophy 181405;SED, Maroteaux type 184095;Spondylometaphyseal dysplasia, Kozlowski type 184252;Hereditary motor and sensory neuropathy, type IIc 606071;Brachyolmia type 3 113500;Digital arthropathy-brachydactyly, familial 606835 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000111199 ENSG00000111199 HGNC:18083 UBA2 gene UBA2 Expert Review;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ACCES syndrome, MIM# 619959;Split-Hand/Foot Malformation;Aplasia Cutis Congenita;Ectrodactyly Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 31332306;31587267;34159400 False 3 100;0;0 0.76 True ENSG00000126261 ENSG00000126261 HGNC:30661 WNT10B gene WNT10B Expert list;Expert Review Green Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6 225300 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 0;0;0 0.76 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Expert list;Expert Review Green;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1 180700 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 False 3 100;0;0 0.76 False ENSG00000114251 ENSG00000114251 HGNC:12784 CHUK gene CHUK Expert list;Expert Review Amber;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339;Cocoon syndrome MIM#613630 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 25691407;20961246;10195895;10195896;29523099;28513979 False 2 0;100;0 0.76 True ENSG00000213341 ENSG00000213341 HGNC:1974 FMN1 gene FMN1 Expert list;Expert Review Amber Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal oligosyndactyly;radioulnar synostosis;hearing loss;renal defects Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 20610440;19383632;15202026 False 2 0;100;0 0.76 True ENSG00000248905 ENSG00000248905 HGNC:3768 HDAC4 gene HDAC4 Expert list;Expert Review Amber;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Albright hereditary osteodystrophy-like syndrome;Brachydactyly-intellectual disability Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 24715439;20691407;31209962 False 2 50;50;0 0.76 False ENSG00000068024 ENSG00000068024 HGNC:14063 HOXD12 gene HOXD12 Expert Review Amber;Other Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clubfoot (non-syndromic) MONDO:0007342 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 38663984 False 2 50;50;0 0.76 True Other ENSG00000170178 ENSG00000170178 HGNC:5135 DLX6 gene DLX6 Expert list;Expert Review Red Hand and foot malformations Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/foot malformation 1 183600 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 28611547 False 1 0;0;100 0.76 True ENSG00000006377 ENSG00000006377 HGNC:2919 FBLN1 gene FBLN1 Expert list;Expert Review Red;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 24084572 False 1 0;0;100 0.76 True ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 Expert list;Expert Review Red Hand and foot malformations Dysmorphic and congenital abnormality syndromes Unknown Split-hand/foot malformation 3 syndrome 246560 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 12913067;16235095;27600068 False 1 0;0;100 0.76 True ENSG00000107829 ENSG00000107829 HGNC:10847 IFT57 gene IFT57 Expert list;Expert Review Red;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XVIII MIM#617927 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 27060890 False 1 0;0;100 0.76 True ENSG00000114446 ENSG00000114446 HGNC:17367 LTBP2 gene LTBP2 Expert list;Expert Review Red;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes Unknown Weill-Marchesani Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 22539340 False 1 50;0;50 0.76 True ENSG00000119681 ENSG00000119681 HGNC:6715 WNT3 gene WNT3 Expert list;Expert Review Red;Victorian Clinical Genetics Services Hand and foot malformations Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 273395 Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760 14872406 False 1 0;0;100 0.76 True ENSG00000108379 ENSG00000108379 HGNC:12782