{"orpha":199318,"name":"15q13.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(15)(q13.3)","Monosomy 15q13.3"],"definition":"A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global developmental delay (DD), intellectual disability (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199318/","orphanet_url":"https://www.orpha.net/en/disease/detail/199318","names":{"fr":{"name":"Syndrome de microdélétion 15q13.3","synonyms":["Del(15)(q13.3)","Monosomie 15q13.3"],"definition":"Anomalie chromosomique rare caractérisée par un risque élevé d'apparition de nombreux troubles du neurodéveloppement, notamment un retard de développement global, une déficience intellectuelle et des troubles du comportement de gravité variable. La microdélétion 15q13.3 n'entraîne pas de phénotype clinique spécifique."},"de":{"name":"Mikrodeletionssyndrom 15q13.3","synonyms":["Del(15)(q13.3)","Monosomie 15q13.3"],"definition":"Eine seltene Chromosomenanomalie, die durch das Auftreten eines breiten Spektrums neurologischer Entwicklungsanomalien gekennzeichnet ist, einschließlich globaler Entwicklungsverzögerung (DD), Intelligenzminderung (ID) und Verhaltensauffälligkeiten unterschiedlichen Schweregrads. Die Mikrodeletion 15q13.3 führt jedoch nicht zu einem spezifischen klinischen Phänotyp."},"es":{"name":"Síndrome de microdeleción 15q13.3","synonyms":["Del(15)(q13.3)","Monosomía 15q13.3"],"definition":"Se trata de una anomalía cromosómica poco frecuente caracterizada por un alto riesgo de aparición de una amplia gama de anomalías del neurodesarrollo, incluyendo el retraso global del desarrollo (RGD), la discapacidad intelectual (DI) y los trastornos de conducta de gravedad variable. La microdeleción 15q13.3 no produce un fenotipo clínico específico."},"it":{"name":"Sindrome da microdelezione 15q13.3","synonyms":["Del(15)(q13.3)","Monosomia 15q13.3"]},"nl":{"name":"15q13.3-microdeletiesyndroom","synonyms":["Del(15)(q13.3)","Monosomie 15q13.3"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door een hoog risico op optreden van een brede waaier aan neurologische ontwikkelingsanomalieën, waaronder algehele ontwikkelingsachterstand, intellectuele achterstand, en gedragsproblemen met variabele ernst. Microdeletie van 15q13.3 leidt niet tot een klinisch specifiek fenotype."},"pt":{"name":"Síndrome de microdeleção 15q13.3","definition":"A síndrome da microdeleção 15q13.3 (microdel15q13.3) é caracterizada por alterações do neurodesenvolvimento com dismorfias subtis ou ausentes."},"pl":{"name":"Zespół mikrodelecji 15q13.3","synonyms":["Del(15)(q13.3)","Monosomia 15q13.3"],"definition":"Rzadka anomalia chromosomowa, charakteryzująca się wysokim ryzykiem wystąpienia nieprawidłowości rozwojowych układu nerwowego, w tym globalnego opóźnienia rozwoju, niepełnosprawności intelektualnej i problemów behawioralnych o różnym nasileniu. Mikrodelecja 15q13.3 nie powoduje klinicznie specyficznego fenotypu."},"cs":{"name":"Mikrodeleční syndrom 15q13.3","synonyms":["Del(15)(q13.3)","Monozomie 15q13.3"]},"uk":{"name":"Синдром мікроделеції 15q13.3","synonyms":["Del(15)(q13.3)","Моносомія 15q13.3"],"definition":"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features."},"zh":{"name":"15q13.3微缺失综合症","synonyms":["15q13.3单体"],"definition":"15q13.3微缺失（microdel15q13.3）综合征的特征为广泛性神经发育障碍伴或不伴其它轻度畸形。"},"tr":{"name":"15q13.3 mikrodelesyon sendromu","synonyms":["Del (15) (q13.3)","Monozomi 15q13.3"]}},"xrefs":[{"source":"OMIM","code":"612001","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.F","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1824908852"},{"source":"MONDO","code":"0012774","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567439","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677613","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10296","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090652","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]}],"children":[],"genes":[{"symbol":"CHRNA7","name":"cholinergic receptor nicotinic alpha 7 subunit","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22775350[PMID]","hgnc":"1960","ensembl":"ENSG00000175344","omim":"118511","loci":["15q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"29691480[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":264.0,"area":"Worldwide","status":"Validated","source":"25077648[PMID]_26963284[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":0.018,"area":"United States","status":"Validated","source":"29691480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":0.04,"area":"Norway","status":"Validated","source":"32778765[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","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:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}