ICD-10: G60.1

chromosome 10q23 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome stromal dystrophy EAST syndrome mitochondrial complex I deficiency Kufor-Rakeb syndrome 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 WHIM syndrome 1 Nance-Horan syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum alpha-methylacyl-CoA racemase deficiency ethylmalonic encephalopathy adult-onset autosomal dominant demyelinating leukodystrophy hypomyelinating leukodystrophy 10 hypomyelinating leukodystrophy 13 hypomyelinating leukodystrophy 12 Prieto syndrome syndromic X-linked intellectual disability Siderius type X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome hereditary neuropathy with liability to pressure palsies Refsum disease Stormorken syndrome Vici syndrome glycerol kinase deficiency chromosomal deletion syndrome autoimmune peripheral neuropathy sensory system disease obsolete physical disorder OBSOLETED TERM obsolete genetic disorder obsolete peripheral dysostosis bradyopsia Frasier syndrome infantile Refsum disease obsolete arachnodactyly bulbospinal polio obsolete acroosteolysis Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 hypermethioninemia congenital disorder of glycosylation type II ABCD syndrome anauxetic dysplasia 1 atransferrinemia biotin-responsive basal ganglia disease Bjornstad syndrome Athabaskan brainstem dysgenesis syndrome Bothnia retinal dystrophy electroclinical syndrome variable age at onset electroclinical syndrome 3-methylcrotonyl-CoA carboxylase deficiency AGAT deficiency COX deficiency, infantile mitochondrial myopathy methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria type cblF cerebral folate receptor alpha deficiency ornithine translocase deficiency PHGDH deficiency PSAT deficiency tyrosinemia type III glycogen metabolism disorder Chanarin-Dorfman syndrome coenzyme Q10 deficiency disease methylmalonic aciduria and homocystinuria type cblG X-linked monogenic disease autosomal dominant disease autosomal recessive disease Y-linked monogenic disease cerebellar ataxia ataxia with oculomotor apraxia type 1 obsolete CLN3 disease deafness-dystonia-optic neuronopathy syndrome obsolete paramyloidosis adenylosuccinase lyase deficiency ARC syndrome neuroacanthocytosis spastic ataxia 1 rapadilino syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 Kahrizi syndrome pyrimidine metabolic disorder orotic aciduria hemidystonia Perrault syndrome infantile cerebellar-retinal degeneration triosephosphate isomerase deficiency spastic ataxia 2 spastic ataxia 3 spastic ataxia 4 spastic ataxia 5 spastic ataxia 7 Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia spastic ataxia X-linked hereditary ataxia autosomal dominant cerebellar ataxia, deafness and narcolepsy hypomyelinating leukoencephalopathy nonprogressive cerebellar ataxia with mental retardation autosomal recessive spinocerebellar ataxia 10 janus kinase-3 deficiency recombinase activating gene 2 deficiency lambda 5 deficiency dropped head syndrome obsolete neurological disorder obsolete peripheral neuropathy organic acidemia GABA aminotransferase deficiency succinic semialdehyde dehydrogenase deficiency homocarnosinosis Van Maldergem syndrome Smith-McCort dysplasia scapuloperoneal myopathy pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 4 Ohdo syndrome Ohdo syndrome, SBBYS variant mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 CEDNIK syndrome Native American myopathy acrorenal syndrome mitochondrial complex III deficiency nuclear type 2