{"orpha":730286,"name":"Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730286/","orphanet_url":"https://www.orpha.net/en/disease/detail/730286","names":{"fr":{"name":"Syndrome de mégalencéphalie-polydactylie postaxiale-ventriculomégalie-neuroblastome"},"de":{"name":"Megalenzephalie-postaxiale Polydaktylie-Ventrikulomegalie-Neuroblastom-Syndrom"},"es":{"name":"Síndrome de megalencefalia-polidactilia postaxial-ventriculomegalia-neuroblastoma"},"it":{"name":"Sindrome megalencefalia-polidattilia postassiale-ventricolomegalia-neuroblastoma"},"nl":{"name":"Megalencefalie - postaxiale polydactylie - ventriculomegalie - neuroblastoom-syndroom"},"pt":{"name":"Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome"},"pl":{"name":"Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome"},"cs":{"name":"Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome"}},"xrefs":[{"source":"OMIM","code":"620748","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]}],"children":[],"genes":[{"symbol":"MYCN","name":"MYCN proto-oncogene, bHLH transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"37710961[PMID]","hgnc":"7559","ensembl":"ENSG00000134323","omim":"164840","loci":["2p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}