{"orpha":85294,"name":"X-linked epilepsy-learning disabilities-behavior disorders syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85294/","orphanet_url":"https://www.orpha.net/en/disease/detail/85294","names":{"fr":{"name":"Syndrome d'épilepsie liée à l'X-difficulté d'apprentissage-troubles du comportement","definition":"Le syndrome d'épilepsie liée à l'X-difficulté d'apprentissage-troubles du comportement est caractérisé par une épilepsie, des difficultés d'apprentissage, une macrocéphalie et un comportement agressif. Il a été décrit chez des hommes appartenant à quatre générations d'une même famille. Il se transmet sur le mode récessif lié à l'X, et est probablement dû à des mutations du gène codant pour la synapsine I (Xp11.3-q12)."},"de":{"name":"X-chromosomale Epilepsie-Lernstörungen-Verhaltensstörungen-Syndrom","synonyms":["Syndrom der X-chromosomale Epilepsie mit Lernstörungen und Verhaltensauffälligkeiten"],"definition":"Dieses Syndrom ist gekennzeichnet durch Epilepsie, Lernstörungen, Makrozephalie und aggressives Verhalten."},"es":{"name":"Síndrome de epilepsia ligada al cromosoma X-problemas de aprendizaje-trastornos conductuales","definition":"Es un síndrome caracterizado por epilepsia, dificultades de aprendizaje, macrocefalia y conducta agresiva. Se ha descrito en varones de una familia de cuatro generaciones. Se transmite como un rasgo recesivo ligado al cromosoma X y es probable que esté causado por mutaciones en el gen que codifica la sinapsina I (Xp11.3-q12)."},"it":{"name":"Epilessia legata all'X - disturbi dell'apprendimento - disturbi del comportamento"},"nl":{"name":"X-gebonden epilepsie - leerstoornissen - gedragsstoornissen-syndroom","definition":"Een syndroom, gekenmerkt door epilepsie, leermoeilijkheden, macrocefalie, en agressief gedrag. Het werd beschreven bij mannen uit een verwantschap van vier generaties. De aandoening wordt overgedragen als een X-gebonden recessief kenmerk, en wordt waarschijnlijk veroorzaakt door mutaties in het gen dat codeert voor synapsine I (Xp11.3-q12)."},"pt":{"name":"Síndrome de epilepsia ligada ao X-dificuldades de aprendizagem-perturbação comportamental"},"pl":{"name":"Padaczka sprzężona z chromosomem X - trudności w uczeniu się - zaburzenia zachowania"},"cs":{"name":"X-vázaný syndrom zahrnující epilepsii, poruchy učení a poruchy chování"},"uk":{"name":"Синдром Х-зчепленої епілепсії-порушення здатності до навчання-полрушення поведінки","definition":"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)."},"zh":{"name":"X连锁癫痫-学习障碍-行为障碍综合征"},"tr":{"name":"X'e bağlı epilepsi-öğrenme güçlüğü-davranış bozuklukları sendromu"}},"xrefs":[{"source":"OMIM","code":"300491","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273990","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":[],"genes":[{"symbol":"SYN1","name":"synapsin I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14985377[PMID]","hgnc":"11494","ensembl":"ENSG00000008056","omim":"313440","loci":["Xp11.3-p11.23"]}],"genes_via_subtypes":[],"inheritance":["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":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null}]}}