{"orpha":708171,"name":"Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["WWOX-related epileptic encephalopathy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708171/","orphanet_url":"https://www.orpha.net/en/disease/detail/708171","names":{"fr":{"name":"Syndrome de dysmorphie faciale-hypoplasie du corps calleux-encéphalopathie épileptique infantile","synonyms":["Encéphalopathie épileptique associée à WWOX"]},"de":{"name":"Gesichtsdysmorphie-Corpus Callosum-Hypoplasie-Infantile epileptische Enzephalopathie-Syndrom","synonyms":["Enzephalopathie, epileptische, WWOX-assoziierte"]},"es":{"name":"Síndrome de dismorfia facial-hipoplasia del cuerpo calloso-encefalopatía epiléptica infantil","synonyms":["Encefalopatía epiléptica asociada a WWOX"]},"it":{"name":"Dismorfismi facciali-ipoplasia del corpo calloso-encefalopatia epilettica infantile","synonyms":["Encefalopatia epilettica correlata a WWOX"]},"nl":{"name":"Faciale dysmorfie - hypoplasie van corpus callosum - infantiele epileptische encefalopathie","synonyms":["WWOX-gerelateerde epileptische encefalopathie"]},"pt":{"name":"Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy"},"pl":{"name":"Dysmorfia twarzy – hipoplazja ciała modzelowatego – encefalopatia padaczkowa niemowlęca","synonyms":["WWOX-related epileptic encephalopathy"]},"cs":{"name":"Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy","synonyms":["WWOX-related epileptic encephalopathy"]}},"xrefs":[{"source":"OMIM","code":"616211","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]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"WWOX","name":"WW domain containing oxidoreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25411445[PMID]_38161429[PMID]","hgnc":"12799","ensembl":"ENSG00000186153","omim":"605131","loci":["16q23.1-q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}