{"orpha":688642,"name":"Turnpenny-Fry syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PCGF2-related disorder","TPFS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-688642/","orphanet_url":"https://www.orpha.net/en/disease/detail/688642","names":{"fr":{"name":"Syndrome de Turnpenny-Fry","synonyms":["Syndrome lié à PCGF2","TPFS"]},"de":{"name":"Turnpenny-Fry-Syndrom","synonyms":["PCGF2-assoziierte Entwicklungsstörung","TPFS"]},"es":{"name":"Síndrome de Turnpenny-Fry","synonyms":["TPFS","Trastorno asociado a PCGF2"]},"it":{"name":"Sindrome di Turnpenny-Fry","synonyms":["Malattia correlata a PCGF2","TPFS"]},"nl":{"name":"Syndroom van Turnpenny-Fry","synonyms":["PCGF2-gerelateerde aandoening","TPFS"]},"pt":{"name":"Síndrome Turnpenny-Fry","synonyms":["Doença PCGF2-relacionada","TPFS"]},"pl":{"name":"Zespół Turnpenny-Fry","synonyms":["PCGF2-related disorder","TPFS"]},"cs":{"name":"Turnpenny-Fryův syndrom","synonyms":["Turnpennyho-Fryův syndrom"]}},"xrefs":[{"source":"OMIM","code":"618371","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"32707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"PCGF2","name":"polycomb group ring finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30343942[PMID]","hgnc":"12929","ensembl":"ENSG00000277258","omim":"600346","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"34750959[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34750959[PMID]_ORPHANET"}],"phenotypes":null}