ICD-10: Z15

spinocerebellar ataxia type 13 obsolete spinocerebellar ataxia type 16 spinocerebellar ataxia type 18 spinocerebellar ataxia type 21 spinocerebellar ataxia type 38 spinocerebellar ataxia type 40 hypomyelinating leukoencephalopathy GRID2-related spinocerebellar ataxia episodic ataxia type 3 episodic ataxia type 6 episodic ataxia type 8 nonprogressive cerebellar ataxia with mental retardation autosomal recessive spinocerebellar ataxia 10 X-linked severe combined immunodeficiency interleukin-7 receptor alpha deficiency DNA ligase IV deficiency autosomal recessive pyridoxine-refractory sideroblastic anemia 2 Pearson syndrome juvenile absence epilepsy succinic semialdehyde dehydrogenase deficiency amyotrophic lateral sclerosis type 11 amyotrophic lateral sclerosis type 16 amyotrophic lateral sclerosis type 19 amyotrophic lateral sclerosis type 21 acrofrontofacionasal dysostosis branchiooculofacial syndrome Brody myopathy Brown-Vialetto-Van Laere syndrome variable age at onset electroclinical syndrome 3-methylcrotonyl-CoA carboxylase deficiency methylmalonic aciduria and homocystinuria type cblD Chanarin-Dorfman syndrome Y-linked monogenic disease cerebellar ataxia deafness-dystonia-optic neuronopathy syndrome Meckel syndrome achalasia microcephaly syndrome mucopolysaccharidosis IX CHARGE syndrome Perrault syndrome IMAGe syndrome Townes-Brocks syndrome spastic ataxia 2 spastic ataxia 3 spastic ataxia 5 hereditary hypophosphatemic rickets with hypercalciuria spinocerebellar ataxia type 2 spinocerebellar ataxia type 4 spinocerebellar ataxia type 8 spinocerebellar ataxia type 12 Van Maldergem syndrome Smith-McCort dysplasia Simpson-Golabi-Behmel syndrome type 1 scapuloperoneal myopathy renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 10 persistent hyperplastic primary vitreous combined oxidative phosphorylation deficiency Ohdo syndrome Ohdo syndrome, SBBYS variant autosomal recessive intellectual developmental disorder Rapp-Hodgkin syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 autosomal dominant sideroblastic anemia 4 CEDNIK syndrome hypoparathyroidism-retardation-dysmorphism syndrome hereditary papulotranslucent acrokeratoderma punctate palmoplantar keratoderma type III orofaciodigital syndrome IV acrofacial dysostosis acrofacial dysostosis Rodriguez type chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 15q25 deletion syndrome chromosome 18p deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 19p13.13 deletion syndrome chromosome 16p13.3 duplication syndrome chromosome 17p13.3 duplication syndrome chromosome 17q21.31 duplication syndrome chromosome 22q11.2 microduplication syndrome chromosome 22q13 duplication syndrome Fleck corneal dystrophy gelatinous drop-like corneal dystrophy Reis-Bucklers corneal dystrophy Thiel-Behnke corneal dystrophy Schnyder corneal dystrophy chromosome 2q31.1 duplication syndrome autoimmune polyendocrine syndrome type 1 lacrimoauriculodentodigital syndrome 1 X-linked dominant hypophosphatemic rickets pachyonychia congenita Gitelman syndrome Loeys-Dietz syndrome erythrokeratodermia variabilis Donohue syndrome Carney complex Alstrom syndrome nonphotosensitive trichothiodystrophy 4 Charcot-Marie-Tooth disease intermediate type congenital adrenal insufficiency Walker-Warburg syndrome congenital disorder of glycosylation type I L-2-hydroxyglutaric aciduria acrokeratosis verruciformis Allan-Herndon-Dudley syndrome atelosteogenesis Baller-Gerold syndrome Bamforth-Lazarus syndrome Beare-Stevenson cutis gyrata syndrome Birt-Hogg-Dube syndrome Athabaskan brainstem dysgenesis syndrome brachyolmia chromosome 5p13 duplication syndrome fibrochondrogenesis Kindler syndrome Kabuki syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia ablepharon macrostomia syndrome lethal congenital contracture syndrome 1 obsolete DMD-related dilated cardiomyopathy Char syndrome Ritscher-Schinzel syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 2 Yunis-Varon syndrome X-linked cleft palate with or without ankyloglossia autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy 3 familial temporal lobe epilepsy 2 restrictive dermopathy autosomal dominant Robinow syndrome 1 obsolete dextro-looped transposition of the great arteries 1 cleft lip-palate-ectodermal dysplasia syndrome syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 17 Wilson-Turner syndrome syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability Chudley-Schwartz type syndromic X-linked intellectual disability 14 Griscelli syndrome type 2 Griscelli syndrome type 3 hereditary neuropathy with liability to pressure palsies Norrie disease autosomal recessive pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1 patterned macular dystrophy 3 patterned macular dystrophy 1 hypomyelinating leukodystrophy 13 syndromic X-linked intellectual disability Lubs type