{"orpha":251038,"name":"3q29 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Trisomy 3q29"],"definition":"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251038/","orphanet_url":"https://www.orpha.net/en/disease/detail/251038","names":{"fr":{"name":"Syndrome de microduplication 3q29","synonyms":["Trisomie 3q29"],"definition":"Des microduplications 3q29 sont des remaniements chromosomiques de description récente."},"de":{"name":"Mikroduplikationssyndrom 3q29","synonyms":["Trisomie 3q29"],"definition":"Die 3q29.Mikroduplikationen sind Chromosomenanomalien mit unklarer klinischer Signifikanz."},"es":{"name":"Síndrome de microduplicación 3q29","synonyms":["Trisomía 3q29"],"definition":"Las microduplicaciones 3q29 son anomalías cromosómicas recientemente descritas con significado clínico incierto."},"it":{"name":"Microduplicazione 3q29","synonyms":["Trisomia 3q29"],"definition":"Le microduplicazioni 3q29 sono anomalie cromosomiche di recente identificazione, la cui rilevanza clinica non è nota."},"nl":{"name":"3q29-microduplicatiesyndroom","synonyms":["Trisomie 3q29"],"definition":"Chromosoomafwijkingen met onduidelijke klinische significantie."},"pt":{"name":"Síndrome de microduplicação 3q29","synonyms":["Trissomia 3q29"],"definition":"As microduplicações 3q29 são anomalias cromossómicas recentemente descritas com significado clínico incerto."},"pl":{"name":"Mikroduplikacja 3q29","synonyms":["Trisomia 3q29"]},"cs":{"name":"Mikroduplikace 3q29","synonyms":["Trizomie 3q29"]},"uk":{"name":"Синдром мікродуплікації 3q29","synonyms":["Трисомія 3q29"],"definition":"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance."},"zh":{"name":"染色体3q29微重复综合征","synonyms":["3q29三体"],"definition":"3q29微重复是近年来发现的一种临床意义不明的染色体异常。"},"tr":{"name":"3q29 mikroduplikasyon sendromu","synonyms":["Trizomi 3q29"]}},"xrefs":[{"source":"OMIM","code":"611936","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1767246611"},{"source":"MONDO","code":"0012761","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2749873","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10360","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262851,"name":"Partial duplication of the long arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"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:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001836","label":"Camptodactyly of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}