{"orpha":101039,"name":"Female restricted epilepsy with intellectual disability","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["EFMR","Juberg-Hellman syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PCDH19 clustering epilepsy","url":"https://raremap.alftech.space/d/ORPHA-101039/","orphanet_url":"https://www.orpha.net/en/disease/detail/101039","names":{"fr":{"name":"Epilepsie de la femme avec déficience intellectuelle","synonyms":["EFMR","Juberg-Hellman syndrome"]},"de":{"name":"Epilepsie mit Intelligenzminderung, auf das weibliche Geschlecht beschränkt","synonyms":["EFMR","Juberg-Hellman-Syndrom"]},"es":{"name":"Epilepsia con discapacidad intelectual restringida a mujeres","synonyms":["EFMR","Síndrome de Juberg-Hellman"]},"it":{"name":"Epilessia limitata alle femmine associata a disabilità intellettiva","synonyms":["EFMR","Sindrome Juberg-Hellman"]},"nl":{"name":"Tot vrouw beperkte epilepsie met intellectuele achterstand","synonyms":["EFMR","Syndroom van Juberg-Hellman"]},"pt":{"name":"Epilepsia restrita ao feminino com perturbação do desenvolvimento intelectual","synonyms":["EFMR","Síndrome Juberg-Hellman"]},"pl":{"name":"Padaczka żeńska z niepełnosprawnością intelektualną","synonyms":["EFMR","Zespół Juberga i Hellmana"]},"cs":{"name":"Specificky ženská epilepsie s mentální retardací","synonyms":["EFMR","Specificky ženská familiární epilepsie a mentální retardace"]},"uk":{"name":"Жіноча обмежена епілепсія з інтелектуальною недостатністю","synonyms":["EFMR","Синдром Юберга-Хелльмана"],"definition":"Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance."},"zh":{"name":"女性局限性癫痫伴智力障碍","synonyms":["Juberg-Hellman综合征"],"definition":"女性局限性癫痫伴智力障碍是一种罕见的X连锁癫痫综合征，其特征是发热性或无热性发作(主要是强直阵挛发作，但也有消失、肌阵挛和无张力发作)，在大多数情况下，发育迟缓和不同严重程度的智力残疾。行为障碍(如自闭症特征、多动症和攻击性)也经常与之相关。这种疾病只影响女性，男性携带者不受影响，尽管是X连锁遗传。"},"tr":{"name":"Zihinsel yetersizlik ile seyreden kadında görülen epilepsi","synonyms":["EFMR","Juberg-Hellman sendromu"]}},"xrefs":[{"source":"MONDO","code":"0010246","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848137","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":714652,"name":"PCDH19 clustering epilepsy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}