{"orpha":98099,"name":"Autosomal recessive syndromic cerebellar ataxia","type":"Category","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-98099/","orphanet_url":"https://www.orpha.net/en/disease/detail/98099","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive syndromique"},"de":{"name":"Ataxie, zerebelläre, autosomal-rezessive, syndromale"},"es":{"name":"Ataxia cerebelosa sindrómica autosómica recesiva"},"it":{"name":"Atassia cerebellare sindromica, autosomica recessiva"},"nl":{"name":"Autosomaal recessieve syndromale cerebellaire ataxie"},"pt":{"name":"Ataxia cerebelosa sindromática autossómica recessiva"},"pl":{"name":"Autosomalna recesywna syndromiczna ataksja możdżkowa"},"cs":{"name":"Autozomálně recesivní syndromické cerebelární ataxie"},"uk":{"name":"Аутосомно-рецесивна синдромальна мозочкова атаксія"},"zh":{"name":"常染色体隐性遗传综合性小脑共济失调"},"tr":{"name":"Otozomal resesif sendromik serebellar ataksi"}},"xrefs":[{"source":"MONDO","code":"0020047","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681516","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]}],"children":[{"orpha":466794,"name":"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","type":"Disease"},{"orpha":459033,"name":"Ataxia-oculomotor apraxia type 4","type":"Disease"},{"orpha":95434,"name":"Autosomal recessive cerebellar ataxia-movement disorder syndrome","type":"Disease"},{"orpha":284271,"name":"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome","type":"Disease"},{"orpha":504476,"name":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","type":"Disease"},{"orpha":2074,"name":"Gemignani syndrome","type":"Malformation syndrome"},{"orpha":715623,"name":"Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}