{"orpha":217340,"name":"17q21.31 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(17)(q21.31)","Trisomy 17q21.31"],"definition":"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217340/","orphanet_url":"https://www.orpha.net/en/disease/detail/217340","names":{"fr":{"name":"Syndrome de microduplication 17q21.31","synonyms":["Dup(17)(q21.31)","Trisomie 17q21.31"],"definition":"Le syndrome de microduplication 17q21.31, de description récente, est associé à un tableau clinique varié dominé par des troubles du comportement et une pauvre interaction sociale."},"de":{"name":"Mikroduplikationssyndrom 17q21.31","synonyms":["Dup(17)(q21.31)","Trisomie 17q21.31"],"definition":"Das neu beschriebene 17q21.31-Mikroduplikation-Syndrom ist mit einem weiten klinischen Spektrum verbunden. Verhaltensstörungen und geringe soziale Interaktion scheinen die am regelmäßigsten auftretenden Symptome zu sein."},"es":{"name":"Síndrome de microduplicación 17q21.31","synonyms":["Dup(17)(q21.31)","Trisomía 17q21.31"],"definition":"El síndrome de microduplicación 17q21.31, se asocia con un cuadro clínico muy variable dominado por los trastornos de conducta y una escasa interacción social."},"it":{"name":"Sindrome da microduplicazione 17q21.31","synonyms":["Dup(17)(q21.31)","Trisomia 17q21.31"],"definition":"La sindrome da microduplicazione 17q21.31, descritta di recente, si associa a uno spettro clinico ampio, caratterizzato da disturbi del comportamento e una scarsa interazione sociale."},"nl":{"name":"17q21.31-microduplicatiesyndroom","synonyms":["Dup(17)(q21.31)","Trisomie 17q21.31"],"definition":"Een syndroom, geassocieerd met een breed klinisch spectrum, waarvan gedragsstoornissen en weinig sociale interactie het meest consistent lijken."},"pt":{"name":"Síndrome de microduplicação 17q21.31","synonyms":["Trissomia 17q21.31"],"definition":"A síndrome de microduplicação 17q21.31 recentemente descrita está associada a um amplo espectro clínico, do qual as alterações do comportamento e a fraca interação social parecem ser as mais consistentes."},"pl":{"name":"Zespół mikroduplikacji 17q21.31","synonyms":["Dup(17)(q21.31)","Trisomia 17q21.31"]},"cs":{"name":"Mikroduplikační syndrom 17q21.31","synonyms":["Dup(17)(q21.31)","Trizomie 17q21.31"]},"uk":{"name":"Синдром мікродуплікації 17q21.31","synonyms":["Dup(17)(q21.31)","Трисомія 17q21.31"],"definition":"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent."},"zh":{"name":"17q21.31微重复综合征","synonyms":["17q21.31三体"],"definition":"新描述的17q21.31微重复综合征临床表现多样，其中行为障碍和社交能力差似乎是最常见的。"},"tr":{"name":"17q21.31 mikroduplikasyon sendromu","synonyms":["Dup (17) (q21.31)","Trizomi 17q21.31"]}},"xrefs":[{"source":"OMIM","code":"613533","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.G0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1085605842"},{"source":"MONDO","code":"0013298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274345","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}