{"orpha":699850,"name":"2p25.3 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(2)(p25.3)","Trisomy 2p25.3 syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699850/","orphanet_url":"https://www.orpha.net/en/disease/detail/699850","names":{"fr":{"name":"Syndrome de microduplication 2p25.3","synonyms":["Dup(2)(p25.3)","Syndrome de trisomie 2p25.3"]},"de":{"name":"Mikroduplikationssyndrom 2p25.3","synonyms":["Dup(2)(p25.3)"]},"es":{"name":"Síndrome de microduplicación 2p25.3","synonyms":["Dup(2)(p25.3)","Síndrome de trisomía 2p25.3"]},"it":{"name":"Sindrome da microduplicazione 2p25.3","synonyms":["Dup(2)(p25.3)","Sindrome da trisomia 2p25.3"]},"nl":{"name":"2p25.3-microduplicatiesyndroom","synonyms":["Dup(2)(p25.3)","Trisomie 2p25.3-syndroom"]},"pt":{"name":"2p25.3 microduplication syndrome"},"pl":{"name":"2p25.3 microduplication syndrome","synonyms":["Dup(2)(p25.3)","Trisomy 2p25.3 syndrome"]},"cs":{"name":"2p25.3 microduplication syndrome","synonyms":["Dup(2)(p25.3)","Trisomy 2p25.3 syndrome"]}},"xrefs":[{"source":"OMIM","code":"616521","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":262698,"name":"Partial duplication of the short arm of chromosome 2 syndrome","classifications":[147,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYT1L","name":"myelin transcription factor 1 like","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"37188826[PMID]","hgnc":"7623","ensembl":"ENSG00000186487","omim":"613084","loci":["2p25.3"]},{"symbol":"PXDN","name":"peroxidasin","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"37188826[PMID]","hgnc":"14966","ensembl":"ENSG00000130508","omim":"605158","loci":["2p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":43.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}