ICD-10: E88.49

guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 Kahrizi syndrome Perrault syndrome pancreatic agenesis infantile cerebellar-retinal degeneration IMAGe syndrome spastic ataxia 4 spinocerebellar ataxia type 17 spinocerebellar ataxia type 25 spinocerebellar ataxia type 27 spinocerebellar ataxia type 35 spinocerebellar ataxia type 36 spinocerebellar ataxia type 37 spinocerebellar ataxia type 38 episodic ataxia type 3 episodic ataxia type 8 dropped head syndrome obsolete sideroblastic anemia with spinocerebellar ataxia autosomal recessive pyridoxine-refractory sideroblastic anemia 2 Pearson syndrome Kennedy's disease Warburg micro syndrome MASA syndrome rippling muscle disease 2 Dowling-Degos disease pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 6 Ohdo syndrome congenital secretory chloride diarrhea 1 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 acrorenal syndrome mitochondrial complex III deficiency nuclear type 2 glycerol kinase deficiency Hennekam syndrome orofaciodigital syndrome V orofaciodigital syndrome XI Cole-Carpenter syndrome lysinuric protein intolerance Desbuquois dysplasia mitochondrial complex I deficiency Barber-Say syndrome Kufor-Rakeb syndrome lethal congenital contracture syndrome 2 Ritscher-Schinzel syndrome 1 3MC syndrome 2 3MC syndrome 3 XFE progeroid syndrome MEHMO syndrome Prieto syndrome Miles-Carpenter syndrome Griscelli syndrome type 1 Griscelli syndrome type 3 osteoporosis-pseudoglioma syndrome obsolete trivittatus encephalitis monogenic disease obsolete physical disorder OBSOLETED TERM obsolete genetic disorder Danon disease Donohue syndrome Liddle syndrome Gamstorp-Wohlfart syndrome nonphotosensitive trichothiodystrophy 4 Charcot-Marie-Tooth disease type 4 obsolete Majewski syndrome obsolete Verma-Naumoff syndrome West syndrome D-2-hydroxyglutaric aciduria Bamforth-Lazarus syndrome pseudo-TORCH syndrome 1 Brody myopathy Brown-Vialetto-Van Laere syndrome electroclinical syndrome childhood electroclinical syndrome 3-methylcrotonyl-CoA carboxylase deficiency AGAT deficiency COX deficiency, infantile mitochondrial myopathy methylmalonic aciduria and homocystinuria type cblF serine deficiency adenylosuccinase lyase deficiency mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Ogden syndrome