{"orpha":217377,"name":"Microduplication Xp11.22p11.23 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(X)(p11.22p11.23)","Trisomy Xp11.22p11.23"],"definition":"Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217377/","orphanet_url":"https://www.orpha.net/en/disease/detail/217377","names":{"fr":{"name":"Syndrome de microduplication Xp11.22p11.23","synonyms":["Dup(X)(p11.22p11.23)","Trisomie Xp11.22p11.23"],"definition":"Des microduplications récurrentes familiales ou <i>de novo</i> Xp11.22p11.23 ont été récemment mises en évidence chez des patients de sexe féminin et masculin."},"de":{"name":"Mikroduplikationssyndrom Xp11.22-p11.23","synonyms":["Dup(X)(p11.22p11.23)","Trisomie Xp11.22-p11.23"],"definition":"Die rekurrierende Xp11.22-p11.23-Mikroduplikation wurde kürzlich bei Patienten beiderlei Geschlechts familiär und als Neumutation beschrieben."},"es":{"name":"Síndrome de microduplicación Xp11.22-p11.23","synonyms":["Dup(X)(p11.22p11.23)","Trisomía Xp11.22p11.23"],"definition":"Recientemente se han identificado microduplicaciones recurrentes familiares y <i>de novo</i> Xp11.22-p11.23 en pacientes de ambos sexos."},"it":{"name":"Sindrome da microduplicazione Xp11.22-p11.23","synonyms":["Trisomia Xp11.22-p11.23"],"definition":"La microduplicazione ricorrente familiare o de novo Xp11.22-p11.23 è stata identificata di recente in entrambi i sessi."},"nl":{"name":"Xp11.22p11.23-microduplicatiesyndroom","synonyms":["Dup(X)(p11.22p11.23)","Trisomie Xp11.22p11.23"],"definition":"Familiale en <i>de novo</i> terugkerende Xp11.22-p11.23-microduplicatie werd geïdentificeerd bij mannen en vrouwen."},"pt":{"name":"Síndrome de microduplicação Xp11.22p11.23","synonyms":["Dup(X)(p11.22p11.23)","Trissomia Xp11.22-p11.23"],"definition":"A microduplicação Xp11.22-p11.23 familiar e de novo recorrente foi recentemente identificada em homens e mulheres."},"pl":{"name":"Zespół mikroduplikacji Xp11.22p11.23","synonyms":["Trisomia Xp11.22-p11.23"]},"cs":{"name":"Syndrom mikroduplikace Xp11.22-p11.23","synonyms":["Trizomie Xp11.22-p11.23"]},"uk":{"name":"Синдром мікродуплікації Xp11.22p11.23","synonyms":["Dup(X)(p11.22p11.23)","Трисомія Xp11.22p11.23"],"definition":"Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females."},"zh":{"name":"Xp11.22p11.23微重复综合征","synonyms":["Xp11.22p11.23三体"],"definition":"家族性和新发复发性Xp11.22-p11.23微重复最近在男女性中均被发现。"},"tr":{"name":"Mikroduplikasyon Xp11.22p11.23 sendromu","synonyms":["Dup (X) (p11.22p11.23)","Trizomi Xp11.22p11.23"]}},"xrefs":[{"source":"OMIM","code":"300801","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"834408318"},{"source":"MONDO","code":"0010428","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303068","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12766","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"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":263775,"name":"Partial duplication of the short arm of chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"IQSEC2","name":"IQ motif and Sec7 domain ArfGEF 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26059843[PMID]","hgnc":"29059","ensembl":"ENSG00000124313","omim":"300522","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"19716111[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19716111[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"19716111[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012557","label":"EEG with centrotemporal focal spike waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null}]}}