{"orpha":1707,"name":"Distal duplication 15q syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Distal trisomy 15q","Telomeric duplication 15q","Trisomy 15qter"],"definition":null,"note":"This disease is described under 15q overgrowth syndrome","url":"https://raremap.alftech.space/d/ORPHA-1707/","orphanet_url":"https://www.orpha.net/en/disease/detail/1707","names":{"fr":{"name":"Syndrome de duplication distale 15q","synonyms":["Duplication 15qter","Duplication télomérique 15q","Trisomie 15qter","Trisomie distale 15q"]},"de":{"name":"Distale Duplikation 15q","synonyms":["Distale Trisomie 15q","Telomere Duplikation 15q","Trisomie 15qter"]},"es":{"name":"Síndrome de duplicación terminal 15q","synonyms":["Trisomía 15qter","Trisomía terminal 15q"]},"it":{"name":"Sindrome duplicazione 15q distale","synonyms":["Duplicazione 15q telomerica","Trisomia 15q distale","Trisomia 15qter"]},"nl":{"name":"Distale duplicatie 15q-syndroom","synonyms":["Distale trisomie 15q","Telomerische duplicatie 15q","Trisomie 15qter"]},"pt":{"name":"Duplicação distal 15q","synonyms":["Duplicação telomérica 15q","Trissomia 15qter","Trissomia distal 15q"]},"pl":{"name":"Zespół duplikacji dystalnej 15q","synonyms":["Dystalna duplikacja 15q","Telomerowa duplikacja 15q","Trisomia 15qter"]},"cs":{"name":"Distální trizomie 15q","synonyms":["Distální duplikace 15q","Telomerická duplikace 15q","Trizomie 15qter"]},"uk":{"name":"Дистальна дуплікація 15q","synonyms":["Дистальна трисомія 15q","Теломерна дуплікація 15q","Трисомія 15qter"]},"zh":{"name":"15号染色体长臂远端三体","synonyms":["Distal duplication 15q"]},"tr":{"name":"Distal trizomi 15q","synonyms":["Trizomi 15qter","Distal duplikasyon 15q","Telomerik duplikasyon 15q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015728","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":314585,"name":"15q overgrowth syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000383","label":"Abnormality of periauricular region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null}]}}