{"orpha":314588,"name":"Distal triplication 15q syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Distal tetrasomy 15q","Tetrasomy 15(q25-qter)","Tetrasomy 15q26","Triplication 15q25-qter","Triplication 15q26"],"definition":null,"note":"This disease is described under 15q overgrowth syndrome","url":"https://raremap.alftech.space/d/ORPHA-314588/","orphanet_url":"https://www.orpha.net/en/disease/detail/314588","names":{"fr":{"name":"Syndrome de triplication distale 15q","synonyms":["Triplication 15q25-qter","Triplication 15q26","Tétrasomie 15(q25-qter)","Tétrasomie 15q26","Tétrasomie distale 15q"]},"de":{"name":"Distale Triplikation 15q","synonyms":["Distal Tetrasomie 15q","Tetrasomie 15(q25-qter)","Tetrasomie 15q26"]},"es":{"name":"Síndrome de triplicación terminal 15q","synonyms":["Tetrasomía 15(q25-qter)","Tetrasomía 15q26","Tetrasomía terminal 15q","Triplicación 15q25-qter","Triplicación 15q26"]},"it":{"name":"Triplicazione 15q distale","synonyms":["Tetrasomia 15(q25-qter)","Tetrasomia 15q distale","Tetrasomia 15q26","Triplicazione 15q25-qter","Triplicazione 15q26"]},"nl":{"name":"Distale triplicatie 15q-syndroom","synonyms":["Distale tetrasomie 15q","Tetrasomie 15(q25-qter)","Tetrasomie 15q26","Triplicatie 15q25-qter","Triplicatie 15q26"]},"pt":{"name":"Triplicação distal 15q","synonyms":["Tetrassomia 15(q25-qter)","Tetrassomia 15q26","Tetrassomia distal 15q","Triplicação 15q25-qter","Triplicação 15q26"]},"pl":{"name":"Zespół triplikacji dystalnej 15q","synonyms":["Tetrasomia 15(q25-qter)","Tetrasomia 15q26","Triplikacja telomerowa 15q"]},"cs":{"name":"Distální tetrazomie 15q","synonyms":["Tetrazomie 15(q25-qter)","Tetrazomie 15q26"]},"uk":{"name":"Дистальна триплікація 15q","synonyms":["Дистальна тетрасомія 15q","Тетрасомія 15(q25-qter)","Тетрасомія 15q26","Тріплікація 15q25-qter","Триплікація 15q26"]},"zh":{"name":"15q远端四体","synonyms":["15q25-末端四体"]},"tr":{"name":"Distal tetrazomi 15q","synonyms":["Tetrazomi 15q26","Tetrazomi 15(q25-qter)"]}},"xrefs":[{"source":"OMIM","code":"614846","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553858","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":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"24793337[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24793337[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-12","source":"22653535[PMID]_19133692[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001507","label":"Growth abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003517","label":"Birth length greater than 97th 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(79-30%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010946","label":"Dilatation of the renal pelvis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional 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