{"orpha":726659,"name":"Houge-Janssens syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PPP2CA-related neurodevelopmental disorder","PPP2CA-related Houge-Janssens syndrome","HJS3"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726659/","orphanet_url":"https://www.orpha.net/en/disease/detail/726659","names":{"fr":{"name":"Syndrome de Houge-Janssens type 3","synonyms":["Trouble du neurodéveloppement associé à PPP2CA","Syndrome de Houge-Janssens associé à PPP2CA"]},"de":{"name":"Houge-Janssens-Syndrom Typ 3","synonyms":["HJS3","PPP2CA-assoziiertes Houge-Janssens-Syndrom","PPP2CA-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de Houge-Janssens tipo 3","synonyms":["SHJ3","Síndrome de Houge-Janssens asociado al gen PPP2CA","Trastorno del neurodesarrollo asociado al gen PPP2CA"]},"it":{"name":"Sindrome di Houge-Janssens tipo 3","synonyms":["HJS3","Sindrome di Houge-Janssens correlata a PPP2CA","Malattia del neurosviluppo correlata a PPP2CA"]},"nl":{"name":"Syndroom van Houge-Janssens type 3","synonyms":["HJS3","PPP2CA-gerelateerd syndroom van Houge-Janssens","PPP2CA-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Houge-Janssens syndrome type 3"},"pl":{"name":"Houge-Janssens syndrome type 3","synonyms":["PPP2CA-related neurodevelopmental disorder","PPP2CA-related Houge-Janssens syndrome","HJS3"]},"cs":{"name":"Houge-Janssens syndrome type 3","synonyms":["PPP2CA-related neurodevelopmental disorder","PPP2CA-related Houge-Janssens syndrome","HJS3"]}},"xrefs":[{"source":"OMIM","code":"618354","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":"PPP2CA","name":"protein phosphatase 2 catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36531959[PMID]_39978342[PMID]","hgnc":"9299","ensembl":"ENSG00000113575","omim":"176915","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}