{"orpha":261243,"name":"16p13.11 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(16)(p13.11)","Trisomy 16p13.11"],"definition":"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261243/","orphanet_url":"https://www.orpha.net/en/disease/detail/261243","names":{"fr":{"name":"Syndrome de microduplication 16p13.11","synonyms":["Dup(16)(p13.11)","Trisomie 16p13.11"],"definition":"Le syndrome de microduplication 16p13.11, récemment décrit, est associé à un tableau clinique variable comprenant un retard du développement, des troubles du comportement, des malformations cardio-vasculaires congénitales et des anomalies squelettiques."},"de":{"name":"Mikroduplikationssyndrom 16p13.11","synonyms":["Dup(16)(p13.11)","Trisomie 16p13.11"],"definition":"Das kürzlich beschriebene 16p13.11-Mikroduplikation-Syndrom ist mit einer Reihe verschiedener klinischer Symptome verbunden, darunter Verhaltensanomalien, verzögerte Enttwicklung, angeborene Herzfehler und Skelettfehlbildungen."},"es":{"name":"Síndrome de microduplicación 16p13.11","synonyms":["Dup(16)(p13.11)","Trisomía 16p13.11"],"definition":"El síndrome de microduplicación 16p13.11 es un síndrome recientemente descrito asociado a rasgos clínicos variables que incluyen anomalías en el comportamiento, retraso en el desarrollo, defectos cardíacos congénitos y anomalías esqueléticas."},"it":{"name":"Sindrome da microduplicazione 16p13.11","synonyms":["Dup(16)(p13.11)","Trisomia 16p13.11"],"definition":"La sindrome da microduplicazione 16p13.11 è una condizione descritta di recente, associata a segni clinici variabili, che comprendono i disturbi del comportamento, il ritardo dello sviluppo, le cardiopatie congenite e le anomalie scheletriche."},"nl":{"name":"16p13.11-microduplicatiesyndroom","synonyms":["Dup(16)(p13.11)","Trisomie 16p13.11"],"definition":"Een syndroom, geassocieerd met variabele klinische kenmerken, waaronder gedragsafwijkingen, ontwikkelingsachterstand, congenitale hartdefecten, en skeletanomalieën."},"pt":{"name":"Síndrome de microduplicação 16p13.11","synonyms":["Trissomia 16p13.11"],"definition":"A síndrome de microduplicação 16p13.11 é uma síndrome recentemente descrita associada a características clínicas variáveis, incluindo anomalias comportamentais, atraso no desenvolvimento, defeitos cardíacos congénitos e anomalias esqueléticas."},"pl":{"name":"Zespół mikroduplikacji 16p13.11","synonyms":["Dup(16)(p13.11)","Trisomia 16p13.11"]},"cs":{"name":"Syndrom mikroduplikace 16p13.11","synonyms":["Dup(16)(p13.11)","Trizomie 16p13.11"]},"uk":{"name":"Синдром мікродуплікації 16p13.11","synonyms":["Dup(16)(p13.11)","Трисомія 16p13.11"],"definition":"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies."},"zh":{"name":"16p13.11微重复综合征","synonyms":["16p13.11三体"],"definition":"16p13.11微重复综合征是近年来发现的一种综合征，相关的临床表现多变，包括行为异常、发育迟缓、先天性心脏病和骨骼异常等。"},"tr":{"name":"16p13.11 mikroduplikasyon sendromu","synonyms":["Dup (16) (p13.11)","Trizomi 16p13.11"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.F1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1377848898"},{"source":"MONDO","code":"0016837","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262794,"name":"Partial duplication of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":162.0,"area":"Worldwide","status":"Validated","source":"27378146[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"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":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}