{"orpha":139474,"name":"17q11.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(17)(q11.2)","Grisart-Destrée syndrome","Trisomy 17q11.2"],"definition":"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139474/","orphanet_url":"https://www.orpha.net/en/disease/detail/139474","names":{"fr":{"name":"Syndrome de microduplication 17q11.2","synonyms":["Dup(17)(q11.2)","Syndrome de Grisart-Destrée","Trisomie 17q11.2"],"definition":"Une microduplication de la région 17q11.2, a été récemment mise en évidence dans la région <i>NF1</i>. Cette même région est impliquée dan le syndrome de microdélétion NF1 (neurofibromatose de type 1)."},"de":{"name":"Mikroduplikationssyndrom 17q11.2","synonyms":["Dup(17)(q11.2)","Grisart-Destrée-Syndrom","Trisomie 17q11.2"],"definition":"Dieses Syndrom ist gekennzeichnet durch intellektuelles Defizit, frühe Glatzenbildung, Schmelzhypoplasie der Zähne und kleine faziale Dysmorphien (spärliche Wimpern und Augenbrauen, langes Mittelgesicht, Jochbeinhypoplasie, Fehlstellung der Base, gedoppelte Nasenspitze, geschwungene Nasenlöcher, schmale Oberlippe)."},"es":{"name":"Síndrome de microduplicación 17q11.2","synonyms":["Dup(17)(q11.2)","Síndrome Grisart-Destrée","Trisomía 17q11.2"],"definition":"El síndrome de microduplicación 17q11.2 se caracteriza por rasgos dismórficos y déficit intelectual."},"it":{"name":"Sindrome da microduplicazione 17q11.2","synonyms":["Dup(17)(q11.2)","Sindrome di Grisart-Destrée","Trisomia 17q11.2"]},"nl":{"name":"17q11.2-microduplicatiesyndroom","synonyms":["Dup(17)(q11.2)","Syndroom van Grisart-Destrée","Trisomie 17q11.2"],"definition":"17q11.2-microduplicatiesyndroom wordt gekenmerkt door dysmorfe kenmerken en intellectuele achterstand."},"pt":{"name":"Síndrome de microduplicação 17q11.2","definition":"O síndrome da microduplicação 17q11.2 é caracterizado por características dismórficas e défice cognitivo."},"pl":{"name":"Zespół mikroduplikacji17q11.2","synonyms":["Dup(17)(q11.2)","Trisomia 17q11.2","Zespół Grisarta i Destrée"]},"cs":{"name":"Mikroduplikační syndrom 17q11.2","synonyms":["Dup(17)(q11.2)","Trizomie 17q11.2","Grisartův-Destréeové syndrom","Grisart-Destréeové syndrom"]},"uk":{"name":"Синдром мікродуплікації 17q11.2","synonyms":["Dup(17)(q11.2)","Синдром Грісарта-Дестре","Трисомія 17q11.2"],"definition":"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit."},"zh":{"name":"17q11.2微重复综合征","synonyms":["Grisart-Destrée综合征"],"definition":"17q11.2微重复综合征以畸形和智力缺陷为特征。"},"tr":{"name":"17q11.2 mikroduplikasyon sendromu","synonyms":["Dup (17) (q11.2)","Trizomi 17q11.2","Grisart-Destrée sendromu"]}},"xrefs":[{"source":"OMIM","code":"618874","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.G0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1102310242"},{"source":"MONDO","code":"0015350","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495679","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":[{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22241097[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"18183042[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18183042[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"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:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004411","label":"Deviated nasal septum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}