{"orpha":2076,"name":"X-linked intellectual disability-epilepsy 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-2076/","orphanet_url":"https://www.orpha.net/en/disease/detail/2076","names":{"fr":{"name":"Epilepsie-déficience intellectuelle liée à l'X"},"de":{"name":"X-chromosomale Intelligenzminderung-Epilepsie-Syndrom"},"es":{"name":"Síndrome de discapacidad intelectual-epilepsia ligado al cromosoma X"},"it":{"name":"Sindrome disabilità intellettiva legata all'X-epilessia"},"nl":{"name":"X-gebonden intellectuele achterstand - epilepsie-syndroom"},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-epilepsia ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - padaczka"},"cs":{"name":"Syndrom zahrnující X-vázanou mentální retardaci a epilepsii"},"uk":{"name":"Х-зчеплений синдром інтелектуальної недостатності та епілепсії"},"zh":{"name":"X-连锁智力残疾-癫痫综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-epilepsi sendromu"}},"xrefs":[{"source":"OMIM","code":"300088","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300423","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300607","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0016160","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680771","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93951,"name":"OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"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":163985,"name":"Hyperekplexia-epilepsy syndrome","type":"Disease"},{"orpha":93952,"name":"X-linked intellectual disability, Hedera type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}