{"orpha":238446,"name":"15q11q13 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["15q11q13 duplication syndrome","Dup(15)(q11q13)","Trisomy 15q11q13"],"definition":"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238446/","orphanet_url":"https://www.orpha.net/en/disease/detail/238446","names":{"fr":{"name":"Syndrome de microduplication 15q11q13","synonyms":["Dup(15)(q11q13)","Syndrome de duplication 15q11q13","Trisomie 15q11q13"],"definition":"Le syndrome de microduplication 15q11-q13 (dup15q11-q13), se caractérise par des troubles du comportement et/ou hypotonie, déficit cognitif, retard du langage et épilepsie. La prévalence est inconnue."},"de":{"name":"Mikroduplikationssyndrom 15q11q13","synonyms":["15q11q13-Duplikationssyndrom","Dup(15)(q11q13)","Trisomie 15q11q13"],"definition":"Das 15q11-q13-Mikroduplikations-Syndrom (dup15q11-q13) ist gekennzeichnet durch neurologische Störungen, Verhaltensanomalien, Muskelhypotonie, kognitive Defizite, verzögerte Sprachentwicklung und Krampfanfälle."},"es":{"name":"Síndrome de microduplicación 15q11q13","synonyms":["Dup(15)(q11q13)","Síndrome de duplicación 15q11q13","Trisomía 15q11q13"],"definition":"El síndrome de microduplicación 15q11-q13 (dup15q11-q13) se caracteriza por trastornos de comportamiento, hipotonía, déficit cognitivo, retraso en el lenguaje y convulsiones."},"it":{"name":"Sindrome da microduplicazione 15q11q13","synonyms":["Dup(15)(q11q13)","Sindrome da duplicazione 15q11-q13","Sindrome da duplicazione 15q11q13","Sindrome da microduplicazione 15q11-q13","Trisomia 15q11-q13","Trisomia 15q11q13"],"definition":"La sindrome da microduplicazione 15q11-q13 (dup15q11-q13) è caratterizzata da disturbi neurocomportamentali, ipotonia, deficit cognitivo, ritardo del linguaggio ed epilessia. La prevalenza non è nota."},"nl":{"name":"15q11q13-microduplicatiesyndroom","synonyms":["15q11q13-duplicatiesyndroom","Dup(15)(q11q13)","Trisomie 15q11q13"],"definition":"Een syndroom, gekenmerkt door neurologische gedragsstoornissen, hypotonie, cognitieve functiestoornis, taalachterstand, en insulten."},"pt":{"name":"Síndrome de microduplicação 15q11q13","definition":"A síndrome da microduplicação 15q11-q13 (dup15q11-q13) é caracterizada por distúrbios neurocomportamentais, hipotonia, défice cognitivo, atraso de linguagem e convulsões."},"pl":{"name":"Zespół mikroduplikacji 15q11q13","synonyms":["Dup(15)(q11q13)","Trisomia 15q11q13","Trisomia 15q11-q13","Zespół duplikacji 15q11-q13","Zespół duplikacji 15q11q13","Zespół mikroduplikacji 15q11-q13"]},"cs":{"name":"15q11q13 mikroduplikační syndrom","synonyms":["Dup(15)(q11q13)","Trizomie 15q11-q13","Trizomie 15q11q13","15q11-q13 duplikační syndrom","15q11-q13 mikroduplikační syndrom","15q11q13 duplikační syndrom"]},"uk":{"name":"Синдром мікродуплікації 15q11q13","synonyms":["Синдром дуплікації 15q11q13","Dup(15)(q11q13)","Трисомія 15q11q13"],"definition":"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown."},"zh":{"name":"15q11q13微重复综合征","synonyms":["15q11q13重复综合征"],"definition":"15q11-q13微重复（dup15q11-q13）综合征的特征为神经行为障碍、肌张力低下、认知障碍、语言延迟和癫痫发作。患病率未知。"},"tr":{"name":"15q11q13 mikroduplikasyon sendromu","synonyms":["Dup (15) (q11q13)","Trizomi 15q11q13","15q11q13 duplikasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"608636","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2039036197"},{"source":"MONDO","code":"0012081","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675336","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262950,"name":"Partial duplication of the long arm of chromosome 15 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"UBE3A","name":"ubiquitin protein ligase E3A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25884337[PMID]","hgnc":"12496","ensembl":"ENSG00000114062","omim":"601623","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}