{"orpha":726667,"name":"Houge-Janssens syndrome type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PPP2R5C-related neurodevelopmental disorder","PPP2R5C-related Houge-Janssens syndrome","HJS4"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726667/","orphanet_url":"https://www.orpha.net/en/disease/detail/726667","names":{"fr":{"name":"Syndrome de Houge-Janssens type 4","synonyms":["Trouble du neurodéveloppement associé à PPP2R5C","Syndrome de Houge-Janssens associé à PPP2R5C"]},"de":{"name":"Houge-Janssens-Syndrom Typ 4","synonyms":["HJS4","PPP2R5C-assoziiertes Houge-Janssens-Syndrom","PPP2R5C-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de Houge-Janssens tipo 4","synonyms":["SHJ4","Síndrome de Houge-Janssens asociado al gen PPP2R5C","Trastorno del neurodesarrollo asociado al gen PPP2R5C"]},"it":{"name":"Sindrome di Houge-Janssens tipo 4","synonyms":["HJS4","Sindrome di Houge-Janssens correlata a PPP2R5C","Malattia del neurosviluppo correlata a PPP2R5C"]},"nl":{"name":"Syndroom van Houge-Janssens type 4","synonyms":["HJS4","PPP2R5C-gerelateerd syndroom van Houge-Janssens","PPP2R5C-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Houge-Janssens syndrome type 4"},"pl":{"name":"Houge-Janssens syndrome type 4","synonyms":["PPP2R5C-related neurodevelopmental disorder","PPP2R5C-related Houge-Janssens syndrome","HJS4"]},"cs":{"name":"Houge-Janssens syndrome type 4","synonyms":["PPP2R5C-related neurodevelopmental disorder","PPP2R5C-related Houge-Janssens syndrome","HJS4"]}},"xrefs":[{"source":"OMIM","code":"621185","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":726644,"name":"Houge-Janssens syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PPP2R5C","name":"protein phosphatase 2 regulatory subunit B'gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25972378[PMID]_39978342[PMID]","hgnc":"9311","ensembl":"ENSG00000078304","omim":"601645","loci":["14q32.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}