ICD-10: E71.51

lethal congenital contracture syndrome 1 Char syndrome Holzgreve-Wagner-Rehder Syndrome hypertrichotic osteochondrodysplasia Cantu type Ritscher-Schinzel syndrome 2 3MC syndrome 1 Yunis-Varon syndrome Nance-Horan syndrome ulnar-mammary syndrome ethylmalonic encephalopathy chondrodysplasia-pseudohermaphroditism syndrome lethal congenital contracture syndrome 3 restrictive dermopathy autosomal dominant Robinow syndrome 2 hypomyelinating leukodystrophy 13 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability 14 Christianson syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Norrie disease Pierson syndrome autosomal recessive pseudohypoaldosteronism type 1 Simpson-Golabi-Behmel syndrome type 1 sclerosteosis renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 4 Meier-Gorlin syndrome autosomal dominant intellectual developmental disorder acrorenal syndrome Stormorken syndrome Vici syndrome punctate palmoplantar keratoderma Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome V Joubert syndrome with orofaciodigital defect orofaciodigital syndrome VIII acrofacial dysostosis Rodriguez type chondrodysplasia Blomstrand type chromosomal deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 16p13.3 duplication syndrome chromosome 17q21.31 duplication syndrome Cole-Carpenter syndrome lysinuric protein intolerance Thiel-Behnke corneal dystrophy Kindler syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome Mowat-Wilson syndrome Warsaw breakage syndrome Koolen de Vries syndrome spinocerebellar ataxia type 5 infantile cerebellar-retinal degeneration triosephosphate isomerase deficiency IMAGe syndrome Townes-Brocks syndrome spastic ataxia 5 spastic ataxia 7 spinocerebellar ataxia type 1 spinocerebellar ataxia type 8 spinocerebellar ataxia type 10 spinocerebellar ataxia type 14 spinocerebellar ataxia type 15 obsolete spinocerebellar ataxia type 16 spinocerebellar ataxia type 27 spinocerebellar ataxia type 28 spinocerebellar ataxia type 36 spinocerebellar ataxia type 37 episodic ataxia type 3 episodic ataxia type 7 episodic ataxia type 8 autosomal recessive spinocerebellar ataxia 10 lambda 5 deficiency Pearson syndrome akinetopsia dentatorubral-pallidoluysian atrophy amyotrophic lateral sclerosis type 19 amyotrophic lateral sclerosis type 21 Cogan-Reese syndrome Baraitser-Winter syndrome Carpenter syndrome Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia Hirata disease monogenic disease obsolete genetic disorder obsolete peripheral dysostosis lacrimoauriculodentodigital syndrome 1 Frasier syndrome white sponge nevus Brooke-Spiegler syndrome Brown-Vialetto-Van Laere syndrome childhood electroclinical syndrome serine deficiency PHGDH deficiency PSAT deficiency PSPH deficiency tyrosinemia type III Qazi Markouizos syndrome ataxia with oculomotor apraxia type 1 obsolete CLN3 disease obsolete paramyloidosis ARC syndrome rapadilino syndrome schneckenbecken dysplasia Meckel syndrome obsolete Opitz-GBBB syndrome Ogden syndrome iridogoniodysgenesis syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome 1 Kahrizi syndrome Stargardt disease Marshall-Smith syndrome Caroli disease Bethlem myopathy Birk-Barel syndrome Bjornstad syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Athabaskan brainstem dysgenesis syndrome Brody myopathy Farber lipogranulomatosis erythrokeratodermia variabilis Donohue syndrome Alstrom syndrome Netherton syndrome Gamstorp-Wohlfart syndrome Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type X obsolete Majewski syndrome obsolete Verma-Naumoff syndrome Fukuyama congenital muscular dystrophy Walker-Warburg syndrome spondylocostal dysostosis congenital disorder of glycosylation type II 2-hydroxyglutaric aciduria glycogen storage disease XV primary congenital glaucoma ABCD syndrome ADULT syndrome triple-A syndrome Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 distal arthrogryposis Bamforth-Lazarus syndrome Bart-Pumphrey syndrome