{"orpha":659642,"name":"Rauch-Steindl syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["NSD2-related syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-659642/","orphanet_url":"https://www.orpha.net/en/disease/detail/659642","names":{"fr":{"name":"Syndrome de Rauch-Steindl","synonyms":["Syndrome associé à NSD2"]},"de":{"name":"Rauch-Steindl-Syndrom","synonyms":["NSD2-assoziiertes Syndrom"]},"es":{"name":"Síndrome de Rauch-Steindl","synonyms":["Síndrome asociado a NSD2"]},"it":{"name":"Sindrome di Rauch-Steindl","synonyms":["Sindrome correlata a NSD2"]},"nl":{"name":"Syndroom van Rauch-Steindl","synonyms":["NSD2-gerelateerd syndroom"]},"pt":{"name":"Síndrome Rauch-Steindl","synonyms":["Síndrome NSD2-relacionada"]},"pl":{"name":"Zespół Rauch-Steindl","synonyms":["NSD2-related syndrome"]},"cs":{"name":"Rauchové-Steindlové syndrom","synonyms":["Rauch-Steindlové syndrom"]},"uk":{"name":"Синдром Рауха-Штайндля","synonyms":["Синдром, повязаний з NSD2"]}},"xrefs":[{"source":"OMIM","code":"619695","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"859219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5562061","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"NSD2","name":"nuclear receptor binding SET domain protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33941880[PMID]","hgnc":"12766","ensembl":"ENSG00000109685","omim":"602952","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"29760529[PMID]_30345613[PMID]_29892088[PMID]_31171569[PMID]_31382906[PMID]_33276791[PMID]_33941880[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29760529[PMID]_30345613[PMID]_29892088[PMID]_31171569[PMID]_31382906[PMID]_33276791[PMID]_33941880[PMID]_ORPHANET"}],"phenotypes":null}