{"orpha":404481,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-404481/","orphanet_url":"https://www.orpha.net/en/disease/detail/404481","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle"},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom"},"es":{"name":"Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo"},"it":{"name":"Sindrome atassia cerebellare autosomica recessiva-epilessia-disabilità intellettiva"},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom"},"pt":{"name":"Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva"},"pl":{"name":"Zespół autosomalna recesywna ataksja móżdźkowa-padaczka-niepełnosprawność intelektualna"},"cs":{"name":"Syndromy zahrnující autozomálně recesivní cerebelární ataxii, epilepsii a mentální retardaci"},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності"},"zh":{"name":"常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征"},"tr":{"name":"Otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"MONDO","code":"0018446","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681145","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":404499,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency","type":"Disease"},{"orpha":404493,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency","type":"Disease"},{"orpha":284282,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}