Human Phenotype Ontology 
Grandparent Node:
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Positional foot deformity (HP:0005656)help
Parent Node:
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Talipes (HP:0001883)help
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Talipes equinovarus (HP:0001762)help
Term ID: 1762
Name: Talipes equinovarus
Synonym: Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus; Talipes varus
Definition: Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Comments:
Reference: HP:0001762
Genes and Diseases:
 
       Child Nodes:
........expandBilateral talipes equinovarus (HP:0001776) help
........expandTalipes cavus equinovarus (HP:0004696) help

 Sister Nodes: 
..expandTalipes calcaneovalgus (HP:0001884) help
..expandTalipes calcaneovarus (HP:0008124) help
..expandTalipes equinovalgus (HP:0001772) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001762HP:0001762Talipes equinovarus0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001762HP:0001762Talipes equinovarus0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0001762HP:0001762Talipes equinovarus0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0001762HP:0001762Talipes equinovarus0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0001762HP:0001762Talipes equinovarus0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001762HP:0001762Talipes equinovarus0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3HP:0040283 - Occasional89
HP:0001762HP:0001762Talipes equinovarus0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001762HP:0001762Talipes equinovarus0ALDH1A2 CL E G H885415472OMIM:620025
HP:0001762HP:0001762Talipes equinovarus0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001762HP:0001762Talipes equinovarus0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0001762HP:0001762Talipes equinovarus0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001762HP:0001762Talipes equinovarus0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001762HP:0001762Talipes equinovarus0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0001762HP:0001762Talipes equinovarus0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0001762HP:0001762Talipes equinovarus0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0001762HP:0001762Talipes equinovarus0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001762HP:0001762Talipes equinovarus0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0001762HP:0001762Talipes equinovarus0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0001762HP:0001762Talipes equinovarus0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessiveHP:0040283 - Occasional49
HP:0001762HP:0001762Talipes equinovarus0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0001762HP:0001762Talipes equinovarus0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001762HP:0001762Talipes equinovarus0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001762HP:0001762Talipes equinovarus0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0001762HP:0001762Talipes equinovarus0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001762HP:0001762Talipes equinovarus0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0001762HP:0001762Talipes equinovarus0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001762HP:0001762Talipes equinovarus0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0001762HP:0001762Talipes equinovarus0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001762HP:0001762Talipes equinovarus0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001762HP:0001762Talipes equinovarus0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0001762HP:0001762Talipes equinovarus0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0001762HP:0001762Talipes equinovarus0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001762HP:0001762Talipes equinovarus0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001762HP:0001762Talipes equinovarus0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001762HP:0001762Talipes equinovarus0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001762HP:0001762Talipes equinovarus0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0001762HP:0001762Talipes equinovarus0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0001762HP:0001762Talipes equinovarus0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0001762HP:0001762Talipes equinovarus0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001762HP:0001762Talipes equinovarus0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1HP:0040283 - Occasional29
HP:0001762HP:0001762Talipes equinovarus0B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 9.28
HP:0001762HP:0001762Talipes equinovarus0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001762HP:0001762Talipes equinovarus0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0001762HP:0001762Talipes equinovarus0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0001762HP:0001762Talipes equinovarus0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0001762HP:0001762Talipes equinovarus0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001762HP:0001762Talipes equinovarus0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0001762HP:0001762Talipes equinovarus0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001762HP:0001762Talipes equinovarus0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001762HP:0001762Talipes equinovarus0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0001762HP:0001762Talipes equinovarus0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0001762HP:0001762Talipes equinovarus0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0001762HP:0001762Talipes equinovarus0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001762HP:0001762Talipes equinovarus0CACNA1C CL E G H7751390OMIM:620029572
HP:0001762HP:0001762Talipes equinovarus0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001762HP:0001762Talipes equinovarus0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040281 - Very frequentHP:0003577 - Congenital onset247
HP:0001762HP:0001762Talipes equinovarus0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0001762HP:0001762Talipes equinovarus0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001762HP:0001762Talipes equinovarus0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0001762HP:0001762Talipes equinovarus0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001762HP:0001762Talipes equinovarus0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001762HP:0001762Talipes equinovarus0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001762HP:0001762Talipes equinovarus0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0001762HP:0001762Talipes equinovarus0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0001762HP:0001762Talipes equinovarus0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001762HP:0001762Talipes equinovarus0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001762HP:0001762Talipes equinovarus0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001762HP:0001762Talipes equinovarus0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0001762HP:0001762Talipes equinovarus0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001762HP:0001762Talipes equinovarus0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0001762HP:0001762Talipes equinovarus0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0001762HP:0001762Talipes equinovarus0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson typeHP:0040281 - Very frequent67
HP:0001762HP:0001762Talipes equinovarus0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0001762HP:0001762Talipes equinovarus0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001762HP:0001762Talipes equinovarus0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001762HP:0001762Talipes equinovarus0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001762HP:0001762Talipes equinovarus0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2HP:0040284 - Very rare243
HP:0001762HP:0001762Talipes equinovarus0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0001762HP:0001762Talipes equinovarus0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001762HP:0001762Talipes equinovarus0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0001762HP:0001762Talipes equinovarus0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0001762HP:0001762Talipes equinovarus0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001762HP:0001762Talipes equinovarus0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001762HP:0001762Talipes equinovarus0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2HP:0040284 - Very rare325
HP:0001762HP:0001762Talipes equinovarus0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0001762HP:0001762Talipes equinovarus0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0001762HP:0001762Talipes equinovarus0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0001762HP:0001762Talipes equinovarus0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0001762HP:0001762Talipes equinovarus0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001762HP:0001762Talipes equinovarus0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0001762HP:0001762Talipes equinovarus0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001762HP:0001762Talipes equinovarus0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0001762HP:0001762Talipes equinovarus0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001762HP:0001762Talipes equinovarus0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0001762HP:0001762Talipes equinovarus0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0001762HP:0001762Talipes equinovarus0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001762HP:0001762Talipes equinovarus0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001762HP:0001762Talipes equinovarus0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001762HP:0001762Talipes equinovarus0CTH CL E G H14912501ORPHA:212CystathioninuriaHP:0040283 - Occasional38
HP:0001762HP:0001762Talipes equinovarus0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0001762HP:0001762Talipes equinovarus0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0001762HP:0001762Talipes equinovarus0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0001762HP:0001762Talipes equinovarus0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0001762HP:0001762Talipes equinovarus0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001762HP:0001762Talipes equinovarus0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001762HP:0001762Talipes equinovarus0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0001762HP:0001762Talipes equinovarus0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0001762HP:0001762Talipes equinovarus0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0001762HP:0001762Talipes equinovarus0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0001762HP:0001762Talipes equinovarus0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001762HP:0001762Talipes equinovarus0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0001762HP:0001762Talipes equinovarus0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001762HP:0001762Talipes equinovarus0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040283 - Occasional51
HP:0001762HP:0001762Talipes equinovarus0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5DHP:0040283 - Occasional37
HP:0001762HP:0001762Talipes equinovarus0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001762HP:0001762Talipes equinovarus0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040283 - Occasional4
HP:0001762HP:0001762Talipes equinovarus0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0001762HP:0001762Talipes equinovarus0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0001762HP:0001762Talipes equinovarus0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040282 - Frequent8
HP:0001762HP:0001762Talipes equinovarus0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0001762HP:0001762Talipes equinovarus0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001762HP:0001762Talipes equinovarus0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessiveHP:0040283 - Occasional3
HP:0001762HP:0001762Talipes equinovarus0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001762HP:0001762Talipes equinovarus0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0001762HP:0001762Talipes equinovarus0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0001762HP:0001762Talipes equinovarus0ERGIC1 CL E G H5722229205OMIM:208100Arthrogryposis multiplex congenita, Neurogenic type.
HP:0001762HP:0001762Talipes equinovarus0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0001762HP:0001762Talipes equinovarus0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0001762HP:0001762Talipes equinovarus0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0001762HP:0001762Talipes equinovarus0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040283 - Occasional81
HP:0001762HP:0001762Talipes equinovarus0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001762HP:0001762Talipes equinovarus0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0001762HP:0001762Talipes equinovarus0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0001762HP:0001762Talipes equinovarus0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0001762HP:0001762Talipes equinovarus0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001762HP:0001762Talipes equinovarus0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0001762HP:0001762Talipes equinovarus0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001762HP:0001762Talipes equinovarus0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0001762HP:0001762Talipes equinovarus0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0001762HP:0001762Talipes equinovarus0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001762HP:0001762Talipes equinovarus0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0001762HP:0001762Talipes equinovarus0FKBP10 CL E G H6068118169ORPHA:2771Bruck syndromeHP:0040282 - Frequent61
HP:0001762HP:0001762Talipes equinovarus0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0001762HP:0001762Talipes equinovarus0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2HP:0040283 - Occasional13
HP:0001762HP:0001762Talipes equinovarus0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4HP:0040283 - Occasional184
HP:0001762HP:0001762Talipes equinovarus0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001762HP:0001762Talipes equinovarus0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0001762HP:0001762Talipes equinovarus0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040282 - Frequent233
HP:0001762HP:0001762Talipes equinovarus0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0001762HP:0001762Talipes equinovarus0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0001762HP:0001762Talipes equinovarus0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0001762HP:0001762Talipes equinovarus0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0001762HP:0001762Talipes equinovarus0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0001762HP:0001762Talipes equinovarus0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040282 - Frequent3
HP:0001762HP:0001762Talipes equinovarus0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001762HP:0001762Talipes equinovarus0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0001762HP:0001762Talipes equinovarus0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0001762HP:0001762Talipes equinovarus0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0001762HP:0001762Talipes equinovarus0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.86
HP:0001762HP:0001762Talipes equinovarus0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001762HP:0001762Talipes equinovarus0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001762HP:0001762Talipes equinovarus0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0001762HP:0001762Talipes equinovarus0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0001762HP:0001762Talipes equinovarus0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0001762HP:0001762Talipes equinovarus0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001762HP:0001762Talipes equinovarus0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040283 - Occasional52
HP:0001762HP:0001762Talipes equinovarus0GDF5 CL E G H82004220OMIM:610017Multiple synostoses syndrome 2HP:0040283 - Occasional52
HP:0001762HP:0001762Talipes equinovarus0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001762HP:0001762Talipes equinovarus0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040281 - Very frequent270
HP:0001762HP:0001762Talipes equinovarus0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001762HP:0001762Talipes equinovarus0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0001762HP:0001762Talipes equinovarus0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001762HP:0001762Talipes equinovarus0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001762HP:0001762Talipes equinovarus0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001762HP:0001762Talipes equinovarus0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001762HP:0001762Talipes equinovarus0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001762HP:0001762Talipes equinovarus0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0001762HP:0001762Talipes equinovarus0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001762HP:0001762Talipes equinovarus0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0001762HP:0001762Talipes equinovarus0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001762HP:0001762Talipes equinovarus0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0001762HP:0001762Talipes equinovarus0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopiaHP:0040284 - Very rare
HP:0001762HP:0001762Talipes equinovarus0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0001762HP:0001762Talipes equinovarus0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001762HP:0001762Talipes equinovarus0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0001762HP:0001762Talipes equinovarus0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0001762HP:0001762Talipes equinovarus0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0001762HP:0001762Talipes equinovarus0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001762HP:0001762Talipes equinovarus0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0001762HP:0001762Talipes equinovarus0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0001762HP:0001762Talipes equinovarus0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0001762HP:0001762Talipes equinovarus0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001762HP:0001762Talipes equinovarus0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001762HP:0001762Talipes equinovarus0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1.98
HP:0001762HP:0001762Talipes equinovarus0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0001762HP:0001762Talipes equinovarus0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040282 - Frequent345
HP:0001762HP:0001762Talipes equinovarus0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0001762HP:0001762Talipes equinovarus0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001762HP:0001762Talipes equinovarus0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001762HP:0001762Talipes equinovarus0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0001762HP:0001762Talipes equinovarus0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0001762HP:0001762Talipes equinovarus0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2SHP:0040283 - Occasional209
HP:0001762HP:0001762Talipes equinovarus0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001762HP:0001762Talipes equinovarus0IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0001762HP:0001762Talipes equinovarus0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001762HP:0001762Talipes equinovarus0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0001762HP:0001762Talipes equinovarus0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001762HP:0001762Talipes equinovarus0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040284 - Very rare99
HP:0001762HP:0001762Talipes equinovarus0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0001762HP:0001762Talipes equinovarus0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0001762HP:0001762Talipes equinovarus0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0001762HP:0001762Talipes equinovarus0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001762HP:0001762Talipes equinovarus0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0001762HP:0001762Talipes equinovarus0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0001762HP:0001762Talipes equinovarus0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0001762HP:0001762Talipes equinovarus0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0001762HP:0001762Talipes equinovarus0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0001762HP:0001762Talipes equinovarus0KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0001762HP:0001762Talipes equinovarus0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0001762HP:0001762Talipes equinovarus0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0001762HP:0001762Talipes equinovarus0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0001762HP:0001762Talipes equinovarus0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0001762HP:0001762Talipes equinovarus0L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0001762HP:0001762Talipes equinovarus0LAMA5 CL E G H39116485OMIM:6200765
HP:0001762HP:0001762Talipes equinovarus0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0001762HP:0001762Talipes equinovarus0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001762HP:0001762Talipes equinovarus0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001762HP:0001762Talipes equinovarus0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0001762HP:0001762Talipes equinovarus0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0001762HP:0001762Talipes equinovarus0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0001762HP:0001762Talipes equinovarus0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0001762HP:0001762Talipes equinovarus0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0001762HP:0001762Talipes equinovarus0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001762HP:0001762Talipes equinovarus0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001762HP:0001762Talipes equinovarus0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001762HP:0001762Talipes equinovarus0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0001762HP:0001762Talipes equinovarus0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001762HP:0001762Talipes equinovarus0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001762HP:0001762Talipes equinovarus0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0001762HP:0001762Talipes equinovarus0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001762HP:0001762Talipes equinovarus0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0001762HP:0001762Talipes equinovarus0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defectsHP:0040283 - Occasional74
HP:0001762HP:0001762Talipes equinovarus0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001762HP:0001762Talipes equinovarus0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040283 - Occasional13
HP:0001762HP:0001762Talipes equinovarus0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0001762HP:0001762Talipes equinovarus0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001762HP:0001762Talipes equinovarus0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0001762HP:0001762Talipes equinovarus0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040284 - Very rare12
HP:0001762HP:0001762Talipes equinovarus0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0001762HP:0001762Talipes equinovarus0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0001762HP:0001762Talipes equinovarus0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0001762HP:0001762Talipes equinovarus0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0001762HP:0001762Talipes equinovarus0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0001762HP:0001762Talipes equinovarus0MYBPC1 CL E G H46047549OMIM:614335Arthrogryposis, distal, type 1B66
HP:0001762HP:0001762Talipes equinovarus0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0001762HP:0001762Talipes equinovarus0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3.166
HP:0001762HP:0001762Talipes equinovarus0MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0001762HP:0001762Talipes equinovarus0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0001762HP:0001762Talipes equinovarus0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0001762HP:0001762Talipes equinovarus0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0001762HP:0001762Talipes equinovarus0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001762HP:0001762Talipes equinovarus0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0001762HP:0001762Talipes equinovarus0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent5
HP:0001762HP:0001762Talipes equinovarus0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001762HP:0001762Talipes equinovarus0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent
HP:0001762HP:0001762Talipes equinovarus0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0001762HP:0001762Talipes equinovarus0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessiveHP:0040283 - Occasional217
HP:0001762HP:0001762Talipes equinovarus0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0001762HP:0001762Talipes equinovarus0NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001762HP:0001762Talipes equinovarus0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0001762HP:0001762Talipes equinovarus0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0001762HP:0001762Talipes equinovarus0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0001762HP:0001762Talipes equinovarus0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001762HP:0001762Talipes equinovarus0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0001762HP:0001762Talipes equinovarus0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040284 - Very rare4
HP:0001762HP:0001762Talipes equinovarus0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2.43
HP:0001762HP:0001762Talipes equinovarus0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0001762HP:0001762Talipes equinovarus0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0001762HP:0001762Talipes equinovarus0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001762HP:0001762Talipes equinovarus0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0001762HP:0001762Talipes equinovarus0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0001762HP:0001762Talipes equinovarus0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0001762HP:0001762Talipes equinovarus0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040283 - Occasional544
HP:0001762HP:0001762Talipes equinovarus0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0001762HP:0001762Talipes equinovarus0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001762HP:0001762Talipes equinovarus0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessiveHP:0040283 - Occasional15
HP:0001762HP:0001762Talipes equinovarus0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0001762HP:0001762Talipes equinovarus0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0001762HP:0001762Talipes equinovarus0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0001762HP:0001762Talipes equinovarus0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001762HP:0001762Talipes equinovarus0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0001762HP:0001762Talipes equinovarus0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0001762HP:0001762Talipes equinovarus0PAICS CL E G H106068587OMIM:619859
HP:0001762HP:0001762Talipes equinovarus0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001762HP:0001762Talipes equinovarus0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001762HP:0001762Talipes equinovarus0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0001762HP:0001762Talipes equinovarus0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0001762HP:0001762Talipes equinovarus0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001762HP:0001762Talipes equinovarus0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001762HP:0001762Talipes equinovarus0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.11
HP:0001762HP:0001762Talipes equinovarus0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0001762HP:0001762Talipes equinovarus0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 577
HP:0001762HP:0001762Talipes equinovarus0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0001762HP:0001762Talipes equinovarus0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome77
HP:0001762HP:0001762Talipes equinovarus0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0001762HP:0001762Talipes equinovarus0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001762HP:0001762Talipes equinovarus0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0001762HP:0001762Talipes equinovarus0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001762HP:0001762Talipes equinovarus0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0001762HP:0001762Talipes equinovarus0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0001762HP:0001762Talipes equinovarus0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0001762HP:0001762Talipes equinovarus0PLOD2 CL E G H53529082ORPHA:2771Bruck syndromeHP:0040282 - Frequent45
HP:0001762HP:0001762Talipes equinovarus0PLOD2 CL E G H53529082OMIM:609220Bruck syndrome 2.45
HP:0001762HP:0001762Talipes equinovarus0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0001762HP:0001762Talipes equinovarus0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040282 - Frequent
HP:0001762HP:0001762Talipes equinovarus0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0001762HP:0001762Talipes equinovarus0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0001762HP:0001762Talipes equinovarus0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001762HP:0001762Talipes equinovarus0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001762HP:0001762Talipes equinovarus0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0001762HP:0001762Talipes equinovarus0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0001762HP:0001762Talipes equinovarus0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001762HP:0001762Talipes equinovarus0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001762HP:0001762Talipes equinovarus0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0001762HP:0001762Talipes equinovarus0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001762HP:0001762Talipes equinovarus0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0001762HP:0001762Talipes equinovarus0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040283 - Occasional31
HP:0001762HP:0001762Talipes equinovarus0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0001762HP:0001762Talipes equinovarus0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0001762HP:0001762Talipes equinovarus0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040281 - Very frequent16
HP:0001762HP:0001762Talipes equinovarus0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0001762HP:0001762Talipes equinovarus0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001762HP:0001762Talipes equinovarus0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001762HP:0001762Talipes equinovarus0REEP1 CL E G H6505525786OMIM:62001187
HP:0001762HP:0001762Talipes equinovarus0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040282 - Frequent3
HP:0001762HP:0001762Talipes equinovarus0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0001762HP:0001762Talipes equinovarus0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001762HP:0001762Talipes equinovarus0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001762HP:0001762Talipes equinovarus0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0001762HP:0001762Talipes equinovarus0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0001762HP:0001762Talipes equinovarus0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001762HP:0001762Talipes equinovarus0RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0001762HP:0001762Talipes equinovarus0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0001762HP:0001762Talipes equinovarus0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001762HP:0001762Talipes equinovarus0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0001762HP:0001762Talipes equinovarus0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0001762HP:0001762Talipes equinovarus0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0001762HP:0001762Talipes equinovarus0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0001762HP:0001762Talipes equinovarus0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0001762HP:0001762Talipes equinovarus0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001762HP:0001762Talipes equinovarus0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0001762HP:0001762Talipes equinovarus0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040284 - Very rare5
HP:0001762HP:0001762Talipes equinovarus0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21HP:0040283 - Occasional5
HP:0001762HP:0001762Talipes equinovarus0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001762HP:0001762Talipes equinovarus0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001762HP:0001762Talipes equinovarus0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0001762HP:0001762Talipes equinovarus0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0001762HP:0001762Talipes equinovarus0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0001762HP:0001762Talipes equinovarus0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0001762HP:0001762Talipes equinovarus0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040283 - Occasional49
HP:0001762HP:0001762Talipes equinovarus0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001762HP:0001762Talipes equinovarus0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0001762HP:0001762Talipes equinovarus0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0001762HP:0001762Talipes equinovarus0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0001762HP:0001762Talipes equinovarus0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0001762HP:0001762Talipes equinovarus0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040282 - Frequent166
HP:0001762HP:0001762Talipes equinovarus0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0001762HP:0001762Talipes equinovarus0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0001762HP:0001762Talipes equinovarus0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0001762HP:0001762Talipes equinovarus0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0001762HP:0001762Talipes equinovarus0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0001762HP:0001762Talipes equinovarus0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0001762HP:0001762Talipes equinovarus0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0001762HP:0001762Talipes equinovarus0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0001762HP:0001762Talipes equinovarus0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001762HP:0001762Talipes equinovarus0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001762HP:0001762Talipes equinovarus0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001762HP:0001762Talipes equinovarus0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0001762HP:0001762Talipes equinovarus0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001762HP:0001762Talipes equinovarus0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0001762HP:0001762Talipes equinovarus0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0001762HP:0001762Talipes equinovarus0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0001762HP:0001762Talipes equinovarus0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0001762HP:0001762Talipes equinovarus0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0001762HP:0001762Talipes equinovarus0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0001762HP:0001762Talipes equinovarus0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040282 - Frequent109
HP:0001762HP:0001762Talipes equinovarus0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001762HP:0001762Talipes equinovarus0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001762HP:0001762Talipes equinovarus0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14
HP:0001762HP:0001762Talipes equinovarus0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0001762HP:0001762Talipes equinovarus0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040283 - Occasional1
HP:0001762HP:0001762Talipes equinovarus0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0001762HP:0001762Talipes equinovarus0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001762HP:0001762Talipes equinovarus0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0001762HP:0001762Talipes equinovarus0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001762HP:0001762Talipes equinovarus0TAF8 CL E G H12968517300OMIM:619972
HP:0001762HP:0001762Talipes equinovarus0TAFAZZIN CL E G H690111577OMIM:302060Barth syndromeHP:0040283 - Occasional
HP:0001762HP:0001762Talipes equinovarus0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001762HP:0001762Talipes equinovarus0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001762HP:0001762Talipes equinovarus0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0001762HP:0001762Talipes equinovarus0TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplicationHP:0040281 - Very frequent55
HP:0001762HP:0001762Talipes equinovarus0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24HP:0040283 - Occasional76
HP:0001762HP:0001762Talipes equinovarus0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0001762HP:0001762Talipes equinovarus0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0001762HP:0001762Talipes equinovarus0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001762HP:0001762Talipes equinovarus0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0001762HP:0001762Talipes equinovarus0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001762HP:0001762Talipes equinovarus0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001762HP:0001762Talipes equinovarus0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001762HP:0001762Talipes equinovarus0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001762HP:0001762Talipes equinovarus0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0001762HP:0001762Talipes equinovarus0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0001762HP:0001762Talipes equinovarus0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8HP:0040283 - Occasional5
HP:0001762HP:0001762Talipes equinovarus0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0001762HP:0001762Talipes equinovarus0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0001762HP:0001762Talipes equinovarus0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001762HP:0001762Talipes equinovarus0TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040284 - Very rare140
HP:0001762HP:0001762Talipes equinovarus0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0001762HP:0001762Talipes equinovarus0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0001762HP:0001762Talipes equinovarus0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0001762HP:0001762Talipes equinovarus0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 9.2
HP:0001762HP:0001762Talipes equinovarus0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0001762HP:0001762Talipes equinovarus0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0001762HP:0001762Talipes equinovarus0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0001762HP:0001762Talipes equinovarus0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0001762HP:0001762Talipes equinovarus0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0001762HP:0001762Talipes equinovarus0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001762HP:0001762Talipes equinovarus0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndromeHP:0040283 - Occasional7
HP:0001762HP:0001762Talipes equinovarus0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0001762HP:0001762Talipes equinovarus0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001762HP:0001762Talipes equinovarus0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001762HP:0001762Talipes equinovarus0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0001762HP:0001762Talipes equinovarus0USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 59HP:0040282 - Frequent7
HP:0001762HP:0001762Talipes equinovarus0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040282 - Frequent111
HP:0001762HP:0001762Talipes equinovarus0VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele111
HP:0001762HP:0001762Talipes equinovarus0VPS33B CL E G H2627612712OMIM:62000963
HP:0001762HP:0001762Talipes equinovarus0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0001762HP:0001762Talipes equinovarus0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001762HP:0001762Talipes equinovarus0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0001762HP:0001762Talipes equinovarus0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0001762HP:0001762Talipes equinovarus0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001762HP:0001762Talipes equinovarus0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001762HP:0001762Talipes equinovarus0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52
HP:0001762HP:0001762Talipes equinovarus0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0001762HP:0001762Talipes equinovarus0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0001762HP:0001762Talipes equinovarus0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001762HP:0001762Talipes equinovarus0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0001762HP:0001762Talipes equinovarus0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0001762HP:0001776Bilateral talipes equinovarus1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001762HP:0001776Bilateral talipes equinovarus1B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001762HP:0001776Bilateral talipes equinovarus1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0001762HP:0001776Bilateral talipes equinovarus1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001762HP:0001776Bilateral talipes equinovarus1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001762HP:0001776Bilateral talipes equinovarus1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0001762HP:0004696Talipes cavus equinovarus1COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0001762HP:0001776Bilateral talipes equinovarus1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0001762HP:0001776Bilateral talipes equinovarus1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001762HP:0001776Bilateral talipes equinovarus1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001762HP:0001776Bilateral talipes equinovarus1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0001762HP:0001776Bilateral talipes equinovarus1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001762HP:0001776Bilateral talipes equinovarus1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001762HP:0001776Bilateral talipes equinovarus1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0001762HP:0001776Bilateral talipes equinovarus1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001762HP:0001776Bilateral talipes equinovarus1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001762HP:0001776Bilateral talipes equinovarus1MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0001762HP:0004696Talipes cavus equinovarus1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0001762HP:0001776Bilateral talipes equinovarus1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0001762HP:0004696Talipes cavus equinovarus1NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0001762HP:0001776Bilateral talipes equinovarus1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001762HP:0001776Bilateral talipes equinovarus1PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0001762HP:0001776Bilateral talipes equinovarus1PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0001762HP:0001776Bilateral talipes equinovarus1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001762HP:0001776Bilateral talipes equinovarus1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0001762HP:0001776Bilateral talipes equinovarus1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001762HP:0001776Bilateral talipes equinovarus1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0001762HP:0001776Bilateral talipes equinovarus1RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0001762HP:0001776Bilateral talipes equinovarus1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0001762HP:0001776Bilateral talipes equinovarus1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001762HP:0001776Bilateral talipes equinovarus1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0001762HP:0001776Bilateral talipes equinovarus1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0001762HP:0001776Bilateral talipes equinovarus1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0001762HP:0001776Bilateral talipes equinovarus1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001762HP:0001776Bilateral talipes equinovarus1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001762HP:0001776Bilateral talipes equinovarus1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0001762HP:0001776Bilateral talipes equinovarus1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001762HP:0001776Bilateral talipes equinovarus1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0001762HP:0004696Talipes cavus equinovarus1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001762HP:0001776Bilateral talipes equinovarus1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001762HP:0001776Bilateral talipes equinovarus1VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele111
HP:0001762HP:0001776Bilateral talipes equinovarus1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39


Genes (348) :ABHD16A ACTA1 ADAT3 ADGRG6 ALDH18A1 ALDH1A2 ALG12 ALG14 ALG3 ALG8 ALG9 AMER1 AMMECR1 ANK1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARHGAP31 ARSI ARVCF ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 B3GAT3 B4GALT7 B9D1 BAP1 BCOR BICD2 BIN1 BLTP1 BMPER BMPR1B BRPF1 C12ORF57 CACNA1C CANT1 CC2D2A CCBE1 CCDC47 CEP55 CHD7 CHMP1A CHN1 CHRM3 CHRNG CHST14 CHST3 CLCN3 COG1 COG4 COG8 COL12A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMT COQ8A CPLX1 CREBBP CRIPT CRLF1 CTBP1 CTDP1 CTH CTU2 DCHS1 DES DHCR24 DHX16 DONSON DPYS DSE DST DYM DYNC2H1 EBP ECEL1 EDEM3 EED EEF1A2 EHMT1 EIF2S3 EIF4A3 ELN ENTPD1 EP300 ERBB2 ERCC5 ERGIC1 EVC EVC2 EXOC6B EZH2 FANCL FAT4 FBLN5 FBN2 FBXO7 FGD4 FGFRL1 FIBP FKBP10 FKBP14 FKTN FLNA FLNB FOXG1 FUZ GAD1 GAN GCH1 GDAP1 GDF5 GLE1 GLI3 GNPTAB GP1BB GPC3 GPC4 GPX4 GRIA2 GSC GTPBP2 GUSB GZF1 H1-4 HACD1 HACE1 HBA1 HBA2 HIRA HK1 HNRNPK HRAS HSD17B4 HSPB1 HSPG2 HYLS1 IFIH1 IGHMBP2 IHH IL6ST IMPDH2 IPO8 IRF6 ITGA7 ITGA8 JMJD1C JPH1 KAT6B KDM5C KIDINS220 KIF1A KMT5B KY L1CAM LAMA5 LAMB2 LETM1 LGI4 LIFR LIMS2 LMBRD1 LMX1B MAFB MAN2B1 MAN2C1 MAP3K20 MAP3K7 MAPK1 MCTP2 MED13L MEGF10 MEGF8 MFSD2A MPZ MSX1 MTMR2 MTRFR MTTP MUSK MYBPC1 MYH3 MYH7 MYH8 MYL11 MYL2 MYMK MYMX MYO9A MYPN MYT1L NADSYN1 NALCN NDE1 NDRG1 NECTIN1 NEK8 NEK9 NELFA NKAP NKX3-2 NR4A2 NSD1 NSD2 NT5C2 OFD1 ORC1 ORC6 OTUD5 OTUD6B PAICS PEX1 PEX2 PEX26 PEX5 PI4KA PIEZO2 PIGB PIGG PITX1 PLEKHG5 PLOD1 PLOD2 PLOD3 PLXND1 PMP22 POLR3A POLR3GL POLRMT POR PPP3CA PRUNE1 PSAT1 PTRH2 RAB11B RAB23 RAB3GAP2 RAI1 RBM10 RBM8A RECQL4 REEP1 REV3L RINT1 RIPK4 RREB1 RSPO2 RUSC2 RYR1 SALL4 SAMD9 SATB2 SBF2 SC5D SCARF2 SCYL1 SEC24C SEC31A SELENON SETBP1 SETD2 SF3B4 SH3PXD2B SH3TC2 SHROOM4 SKI SLC25A19 SLC26A2 SLC35A2 SLC35D1 SLC6A9 SMAD3 SMARCA2 SMARCAL1 SMOC1 SMS SNCA SNRPN SNX14 SOX9 SPEG SPTBN1 STAC3 STXBP1 SUZ12 SYNE1 SYT1 TAF1 TAF8 TAFAZZIN TBC1D23 TBX1 TBX15 TBX4 TCTN2 TCTN3 TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TH TMCO1 TMTC3 TNNI2 TNNT3 TOR1A TP63 TPM2 TPM3 TRAIP TRIM2 TRIP11 TRPV4 TSPOAP1 TTN TWIST2 UBE2A UFD1 UNC80 USP8 VANGL1 VPS33B VRK1 VWA1 WDR73 WNT7A ZC4H2 ZFYVE27 ZIC3 ZNF148 ZNF699 ZSWIM6

Diseases (380) :OMIM:619735 ORPHA:2020 ORPHA:363528 OMIM:616503 ORPHA:90348 OMIM:616603 OMIM:219150 OMIM:620025 ORPHA:79324 OMIM:607143 OMIM:619036 OMIM:601110 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:300373 OMIM:300990 ORPHA:251066 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:821 OMIM:100300 ORPHA:401815 ORPHA:567 OMIM:618011 OMIM:278250 OMIM:617403 OMIM:617402 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:609465 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:614209 OMIM:619762 OMIM:300166 OMIM:615290 OMIM:618291 ORPHA:169186 OMIM:255200 OMIM:617822 OMIM:608022 OMIM:609441 ORPHA:93388 OMIM:617333 OMIM:218340 OMIM:620029 OMIM:251450 OMIM:612284 OMIM:235510 OMIM:618268 OMIM:236500 OMIM:214800 OMIM:614961 ORPHA:233 OMIM:100100 ORPHA:2970 OMIM:265000 OMIM:601776 OMIM:143095 OMIM:619512 ORPHA:263508 OMIM:611209 ORPHA:85172 OMIM:618150 OMIM:611182 ORPHA:536516 ORPHA:287 OMIM:617821 OMIM:183900 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130010 OMIM:254090 ORPHA:98915 ORPHA:139485 OMIM:194190 ORPHA:280 OMIM:180849 OMIM:615789 OMIM:272430 OMIM:604168 ORPHA:212 OMIM:618142 ORPHA:314679 OMIM:601390 OMIM:181400 OMIM:602398 OMIM:618733 OMIM:251230 OMIM:222748 OMIM:615539 OMIM:614653 OMIM:223800 OMIM:613091 OMIM:302960 ORPHA:35173 OMIM:615065 OMIM:619493 ORPHA:3447 OMIM:616393 OMIM:610253 ORPHA:85282 OMIM:268305 OMIM:615683 OMIM:619465 OMIM:616570 OMIM:208100 OMIM:225500 OMIM:277590 OMIM:614083 OMIM:615546 OMIM:121050 OMIM:260300 ORPHA:171695 OMIM:609311 ORPHA:500095 ORPHA:2771 OMIM:259450 OMIM:614557 OMIM:611588 OMIM:309350 ORPHA:1190 ORPHA:56305 OMIM:108720 OMIM:108721 OMIM:150250 OMIM:272460 OMIM:613454 ORPHA:3027 OMIM:619124 ORPHA:643 OMIM:256850 ORPHA:98808 OMIM:128230 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:608340 OMIM:615072 OMIM:113100 OMIM:610017 OMIM:611890 ORPHA:93322 OMIM:252500 ORPHA:576 ORPHA:373 OMIM:312870 OMIM:250220 OMIM:618917 OMIM:602471 OMIM:617988 OMIM:253220 OMIM:617662 OMIM:617537 OMIM:616756 ORPHA:98791 ORPHA:99953 ORPHA:352665 ORPHA:453504 OMIM:218040 OMIM:261515 OMIM:233400 ORPHA:99940 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:255800 OMIM:236680 OMIM:182250 OMIM:616155 OMIM:604320 OMIM:619752 OMIM:619472 ORPHA:199302 OMIM:119500 OMIM:191830 ORPHA:85201 OMIM:606170 OMIM:300534 ORPHA:85279 OMIM:619501 OMIM:614255 OMIM:617788 ORPHA:496689 OMIM:617114 OMIM:303350 OMIM:620076 OMIM:617468 ORPHA:3206 OMIM:616827 OMIM:277380 ORPHA:495818 ORPHA:2614 OMIM:161200 ORPHA:309282 OMIM:619775 OMIM:617137 OMIM:619087 ORPHA:1596 OMIM:616789 OMIM:614399 ORPHA:65759 OMIM:614976 OMIM:616486 ORPHA:3115 OMIM:601382 ORPHA:320375 OMIM:615035 ORPHA:14 OMIM:208150 OMIM:614335 OMIM:193700 OMIM:618436 OMIM:618469 ORPHA:2053 ORPHA:59135 OMIM:158300 OMIM:619110 ORPHA:1358 OMIM:254940 OMIM:618198 OMIM:617336 OMIM:616521 OMIM:618845 OMIM:616266 ORPHA:371364 OMIM:605013 OMIM:601455 OMIM:615415 OMIM:617022 OMIM:301039 OMIM:613330 OMIM:613162 OMIM:300209 OMIM:224690 OMIM:613803 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:619859 OMIM:214100 OMIM:614866 OMIM:614872 OMIM:214110 OMIM:616716 OMIM:619708 OMIM:616531 OMIM:114300 OMIM:108145 OMIM:617146 ORPHA:1154 OMIM:248700 OMIM:618580 OMIM:119800 OMIM:611067 OMIM:225400 ORPHA:1900 OMIM:609220 OMIM:612394 ORPHA:570 OMIM:264090 OMIM:619234 OMIM:619743 ORPHA:95699 OMIM:617711 OMIM:617481 ORPHA:544469 ORPHA:284417 OMIM:616263 OMIM:617807 OMIM:212720 ORPHA:477817 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:268400 OMIM:620011 OMIM:618641 OMIM:263650 OMIM:618022 OMIM:617773 ORPHA:597 ORPHA:178145 OMIM:617053 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:604563 OMIM:607330 OMIM:600920 ORPHA:466794 OMIM:616719 OMIM:618651 OMIM:269150 OMIM:154400 ORPHA:1788 OMIM:249420 OMIM:601596 ORPHA:85288 OMIM:182212 OMIM:613710 ORPHA:93298 ORPHA:56304 OMIM:256050 OMIM:222600 OMIM:226900 ORPHA:93307 ORPHA:356961 OMIM:269250 OMIM:617301 OMIM:613795 OMIM:619293 OMIM:242900 ORPHA:1106 OMIM:206920 OMIM:309583 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:114290 ORPHA:140 OMIM:619475 ORPHA:168572 OMIM:618484 ORPHA:319332 ORPHA:522077 OMIM:300966 OMIM:619972 OMIM:302060 OMIM:617695 OMIM:260660 ORPHA:238578 OMIM:616654 OMIM:613885 OMIM:614815 OMIM:301066 OMIM:616145 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:101150 OMIM:213980 OMIM:617255 OMIM:601680 OMIM:618435 OMIM:618947 OMIM:108120 OMIM:616777 OMIM:615490 OMIM:200600 OMIM:181405 OMIM:600175 OMIM:200110 OMIM:209885 ORPHA:163956 ORPHA:401795 OMIM:600145 OMIM:620009 OMIM:607596 OMIM:619216 OMIM:251300 OMIM:228930 OMIM:314580 OMIM:301041 OMIM:610244 OMIM:306955 OMIM:617260 OMIM:619488 OMIM:603671 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.