{"orpha":423655,"name":"ARX-related encephalopathy-brain malformation spectrum","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-423655/","orphanet_url":"https://www.orpha.net/en/disease/detail/423655","names":{"fr":{"name":"Spectre d'encéphalopathie-malformation cérébrale lié à ARX"},"de":{"name":"ARX-bedingtes Enzephalopathie-Hirnfehlbildungs-Spektrum"},"es":{"name":"Espectro de encefalopatía-malformación cerebral ligado al cromosoma X"},"it":{"name":"Spettro encefalopatia-malformazioni cerebrali, legato all'X"},"nl":{"name":"ARX-gerelateerd encefalopathie - hersenmalformatie-spectrum"},"pt":{"name":"Espectro clínico de malformação cerebral-encefalopatia ARX-relacionada"},"pl":{"name":"Encefalopatia związana z ARX-spektrum malformacji mózgu"},"cs":{"name":"ARX vázané spektrum zahrnující encefalopatii a malformace mozku"},"uk":{"name":"Енцефалопатія, повязана з ARX- спектр вад розвитку головного мозку"},"zh":{"name":"ARX相关脑病-脑畸形谱"},"tr":{"name":"ARX ​​-ilişkili ensefalopati-beyin malformasyon spektrumu"}},"xrefs":[{"source":"MONDO","code":"18496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182079,"name":"ARX-related epileptic encephalopathy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[{"orpha":2508,"name":"Corpus callosum agenesis-abnormal genitalia syndrome","type":"Malformation syndrome"},{"orpha":452,"name":"X-linked lissencephaly with abnormal genitalia","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":null}