{"orpha":217385,"name":"17p13.3 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["17p13.3 duplication syndrome","Dup(17)(p13.3)","Trisomy 17p13.3"],"definition":"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217385/","orphanet_url":"https://www.orpha.net/en/disease/detail/217385","names":{"fr":{"name":"Syndrome de microduplication 17p13.3","synonyms":["Dup(17)(p13.3)","Syndrome de duplication 17p13.3","Trisomie 17p13.3"],"definition":"Le syndrome de microduplication 17p13.3 se caractérise par un retard psychomoteur variable et une dysmorphie."},"de":{"name":"Mikroduplikationssyndrom 17p13","synonyms":["Dup(17)(p13.3)","Trisomie 17p13.3"],"definition":"Das 17p13.3-Mikroduplikation-Syndrom ist gekennzeichnet durch unterschiedlich schwere psychomotorische Retardierung und Dysmorphien."},"es":{"name":"Síndrome de microduplicación 17p13.3","synonyms":["Dup(17)(p13.3)","Síndrome de duplicación 17p13.3","Trisomía 17p13.3"],"definition":"El síndrome de microduplicación 17p13.3 se caracteriza por un retraso psicomotor variable y rasgos dismórficos."},"it":{"name":"Sindrome da microduplicazione 17p13.3","synonyms":["Dup(17)(p13.3)","Sindrome da duplicazione 17p13.3","Trisomia 17p13.3"],"definition":"La sindrome da microduplicazione 17p13.3 è caratterizzata da ritardo psicomotorio variabile e dismorfismi."},"nl":{"name":"17p13.3-microduplicatiesyndroom","synonyms":["17p13.3-duplicatiesyndroom","Dup(17)(p13.3)","Trisomie 17p13.3"],"definition":"Een syndroom, gekenmerkt door variabele psychomotorische achterstand en dysmorfe kenmerken."},"pt":{"name":"Síndrome de microduplicação 17p13.3","synonyms":["Trissomia 17p13.3"],"definition":"O síndrome da microduplicação 17p13.3 é caracterizado por atraso psicomotor variável e características dismórficas."},"pl":{"name":"Zespół mikroduplikacji 17p13.3","synonyms":["Dup(17)(p13.3)","Trisomia17p13.3","Zespół duplikacji 17p13.3"]},"cs":{"name":"Mikroduplikační syndrom 17p13.3","synonyms":["Dup(17)(p13.3)","Trizomie 17p13.3","Duplikační syndrom 17p13.3"]},"uk":{"name":"Синдром мікродуплікації 17p13.3","synonyms":["Синдром дуплікації 17p13.3","Dup(17)(p13.3)","Трисомія 17p13.3"],"definition":"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features."},"zh":{"name":"17p13.3微重复综合征","synonyms":["17p13.3重复综合征"],"definition":"17p13.3微重复综合征的特征是表现多样的精神运动延迟和畸形。"},"tr":{"name":"17p13.3 mikroduplikasyon sendromu","synonyms":["Dup (17) (s13.3)","Trizomi 17p13.3","17p13.3 duplikasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"613215","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.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"288421473"},{"source":"MONDO","code":"0013182","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304641","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":262803,"name":"Partial duplication of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PAFAH1B1","name":"platelet activating factor acetylhydrolase 1b regulatory subunit 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21195811[PMID]","hgnc":"8574","ensembl":"ENSG00000007168","omim":"601545","loci":["17p13.3"]},{"symbol":"YWHAE","name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21195811[PMID]","hgnc":"12851","ensembl":"ENSG00000108953","omim":"605066","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"23813913[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":"19520700[PMID]","terms":[{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}