ICD-10: Q93.9

acrofacial dysostosis, Patagonia type chromosomal deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 1p36 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome chromosome 19p13.13 deletion syndrome Schnyder corneal dystrophy Desbuquois dysplasia Kindler syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome Perry syndrome Pitt-Hopkins syndrome Barber-Say syndrome lethal congenital contracture syndrome 2 Char syndrome Ritscher-Schinzel syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 2 Yunis-Varon syndrome WHIM syndrome 1 Nance-Horan syndrome ethylmalonic encephalopathy lethal congenital contracture syndrome 4 Muenke Syndrome familial chronic myelocytic leukemia-like syndrome cleft lip-palate-ectodermal dysplasia syndrome hypomyelinating leukodystrophy 13 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability Hedera type Miles-Carpenter syndrome syndromic X-linked intellectual disability 14 Christianson syndrome obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 3 Leri-Weill dyschondrosteosis Pierson syndrome Potocki-Lupski syndrome lacrimoauriculodentodigital syndrome 1 mulibrey nanism Usher syndrome familial partial lipodystrophy Gitelman syndrome campomelic dysplasia Donohue syndrome Alstrom syndrome Liddle syndrome nonphotosensitive trichothiodystrophy 4 intermediate spinal muscular atrophy obsolete SC phocomelia syndrome Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 4 obsolete Saldino-Noonan syndrome obsolete Verma-Naumoff syndrome obsolete infantile onset spinocerebellar ataxia congenital disorder of glycosylation type II cranioectodermal dysplasia glycogen storage disease XV muscular dystrophy-dystroglycanopathy type B1 Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 obsolete anonychia congenita atransferrinemia Baller-Gerold syndrome bestrophinopathy Birt-Hogg-Dube syndrome Boomerang dysplasia brachydactyly-syndactyly syndrome brachyolmia childhood electroclinical syndrome COX deficiency, infantile mitochondrial myopathy cerebral folate receptor alpha deficiency tyrosinemia type III Chanarin-Dorfman syndrome autosomal dominant disease autosomal genetic disease obsolete CLN3 disease midface dysplasia mitochondrial complex V (ATP synthase) deficiency nuclear type 1 spastic ataxia 1 Meckel syndrome obsolete Opitz-GBBB syndrome achalasia microcephaly syndrome cerebral creatine deficiency syndrome 1 CHARGE syndrome Perrault syndrome Koolen de Vries syndrome spastic ataxia 2 spastic ataxia 3 spastic ataxia 4 spastic ataxia 5 autosomal recessive cerebellar ataxia spinocerebellar ataxia type 2 spinocerebellar ataxia type 10 spinocerebellar ataxia type 14 spinocerebellar ataxia type 18 spinocerebellar ataxia type 30 spinocerebellar ataxia type 35 spinocerebellar ataxia type 37 spinocerebellar ataxia type 38 hypomyelinating leukoencephalopathy episodic ataxia type 3 autosomal recessive spinocerebellar ataxia 10 CD3zeta deficiency CD45 deficiency CD3epsilon deficiency CD3gamma deficiency lambda 5 deficiency mu chain disease Smith-McCort dysplasia Simpson-Golabi-Behmel syndrome type 1 renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 5 Ohdo syndrome Meier-Gorlin syndrome autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability CEDNIK syndrome acrofacial dysostosis Cincinnati type Vici syndrome Galloway-Mowat syndrome 1 orofaciodigital syndrome III orofaciodigital syndrome VII orofaciodigital syndrome IX acrofacial dysostosis Rodriguez type