{"orpha":689397,"name":"Poirier-Bienvenu neurodevelopmental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689397/","orphanet_url":"https://www.orpha.net/en/disease/detail/689397","names":{"fr":{"name":"Syndrome neurodéveloppemental de Poirier-Bienvenu","synonyms":["Syndrome du neuro-développement Poirier-Bienvenue"]},"de":{"name":"Neurologische Entwicklungsstörung Typ Poirier-Bienvenue","synonyms":["POBINDS"]},"es":{"name":"Síndrome del neurodesarrollo de Poirier-Bienvenue"},"it":{"name":"Sindrome del neurosviluppo di Poirier-Bienvenu"},"nl":{"name":"Neurologisch ontwikkelingssyndroom van Poirier-Bienvenu"},"pt":{"name":"Síndrome Poirier-Bienvenue do neurodesenvolvimento"},"pl":{"name":"Zespół neurorozwojowy Poiriera-Bienvenue"},"cs":{"name":"Poirier-Bienvenueův neurovývojový syndrom","synonyms":["Poirierové-Bienvenueův neurovývojový syndrom"]}},"xrefs":[{"source":"OMIM","code":"618732","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,"icd11_uri":"null"},{"source":"MONDO","code":"32889","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"CSNK2B","name":"casein kinase 2 beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34740143[PMID]","hgnc":"2460","ensembl":"ENSG00000204435","omim":"115441","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":81.0,"area":"Worldwide","status":"Validated","source":"38037515[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38037515[PMID]_ORPHANET"}],"phenotypes":null}