{"orpha":261120,"name":"14q11.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Monosomy 14q11.2","Del(14)(q11.2)"],"definition":"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261120/","orphanet_url":"https://www.orpha.net/en/disease/detail/261120","names":{"fr":{"name":"Syndrome de microdélétion 14q11.2","synonyms":["Del(14)(q11.2)","Monosomie 14q11.2"],"definition":"Le syndrome de microdélétion 14q11.2, récemment décrit, se caractérise par un retard du développement, une hypotonie et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 14q11.2","synonyms":["Del(14)(q11.2)","Monosomie 14q11.2"],"definition":"Das kürzlich beschriebene 14q11.2-Mikrodeletion-Syndrom ist gekennzeichnet durch verzögerte Entwicklung, Muskelhypotonie und faziale Dysmorphien."},"es":{"name":"Síndrome de microdeleción 14q11.2","synonyms":["Del(14)(q11.2)","Monosomía 14q11.2"],"definition":"El síndrome de microdeleción 14q11.2 es un síndrome recientemente descrito caracterizado por retraso psicomotor, hipotonía y dismorfia facial."},"it":{"name":"Sindrome da microdelezione 14q11.2","synonyms":["Del(14)(q11.2)","Monosomia 14q11.2"],"definition":"La sindrome da microdelezione 14q11.2 è una malattia caratterizzata da ritardo dello sviluppo, ipotonia e dismorfismi facciali."},"nl":{"name":"14q11.2-microdeletiesyndroom","synonyms":["Del(14)(q11.2)","Monosomie 14q11.2"],"definition":"Een syndroom, gekenmerkt door ontwikkelingsachterstand, hypotonie, en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção 14q11.2","definition":"A síndrome da microdeleção 14q11.2 é uma síndrome recentemente descrita, caracterizada por atraso no desenvolvimento, hipotonia e dismorfia facial."},"pl":{"name":"Zespół mikrodelecji 14q11.2","synonyms":["Del(14)(q11.2)","Monosomia 14q11.2"]},"cs":{"name":"Syndrom mikrodelece 14q11.2","synonyms":["Del(14)(q11.2)","Monozomie 14q11.2"]},"uk":{"name":"Синдром мікроделеції 14q11.2","synonyms":["Del(14)(q11.2)","Моносомія 14q11.2"],"definition":"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism."},"zh":{"name":"染色体14q11.2微缺失综合征","synonyms":["14q11.2单体"],"definition":"14q11.2微缺失综合征是新近报道的一种以发育迟缓、肌张力低下和面部畸形为特征的综合征。"},"tr":{"name":"14q11.2 mikrodelesyon sendromu","synonyms":["Del (14) (q11.2)","Monozomi 14q11.2"]}},"xrefs":[{"source":"OMIM","code":"613457","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1854856553"},{"source":"MONDO","code":"0013272","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304999","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"17545556[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":"21744488[PMID]_8010711[PMID]","terms":[{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}