{"orpha":727620,"name":"16p13.11p11.2 triplication/16p11.2 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Tetrasomy 16p13.11p11.2/trisomy 16p11.2 syndrome","Trip(16)(p13.11p11.2)/Dup(16)p(11.2) syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727620/","orphanet_url":"https://www.orpha.net/en/disease/detail/727620","names":{"fr":{"name":"Syndrome de triplication 16p13.11p11.2/duplication 16p11.2","synonyms":["Syndrome de tétrasomie 16p13.11p11.2/trisomie 16p11.2","Syndrome de trip(16)(p13.11p11.2)/Dup(16)p(11.2)"]},"de":{"name":"16p13.11p11.2-Triplikation/16p11.2-Duplikation","synonyms":["Trip(16)(p13.11p11.2)/Dup(16)p(11.2)-Syndrom","Tetrasomie-16p13.11p11.2/Trisomie-16p11.2-Syndrom"]},"es":{"name":"Síndrome de triplicación/duplicación 16p13.11p11.2","synonyms":["Síndrome de tetrasomía 16p13.11p11.2/trisomía 16p11.2","Síndrome Trip(16)(p13.11p11.2)/Dup(16)p(11.2)"]},"it":{"name":"Sindrome triplicazione 16p13.11p11.2 /duplicazione 16p11.2","synonyms":["Sindrome Trip(16)(p13.11p11.2)/Dup(16)p(11.2)","Sindrome tetrasomia 16p13.11p11.2/trisomia 16p11.2"]},"nl":{"name":"16p13.11p11.2-triplicatie/16p11.2-duplicatiesyndroom","synonyms":["Trip(16)(p13.11p11.2)/Dup(16)p(11.2)-syndroom","Tetrasomie 16p13.11p11.2/trisomie 16p11.2-syndroom"]},"pt":{"name":"16p13.11p11.2 triplication/16p11.2 duplication syndrome"},"pl":{"name":"16p13.11p11.2 triplication/16p11.2 duplication syndrome","synonyms":["Tetrasomy 16p13.11p11.2/trisomy 16p11.2 syndrome","Trip(16)(p13.11p11.2)/Dup(16)p(11.2) syndrome"]},"cs":{"name":"16p13.11p11.2 triplication/16p11.2 duplication syndrome","synonyms":["Tetrasomy 16p13.11p11.2/trisomy 16p11.2 syndrome","Trip(16)(p13.11p11.2)/Dup(16)p(11.2) syndrome"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]},{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"35388186[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35388186[PMID]_ORPHANET"}],"phenotypes":null}