{"orpha":714407,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714407/","orphanet_url":"https://www.orpha.net/en/disease/detail/714407","names":{"fr":{"name":"Syndrome de retard de développement-macrocéphalie-dysgénésie du corps calleux-déficience intellectuelle due à une mutation de NFIB"},"de":{"name":"Erworbene Makrozephalie mit beeinträchtigter intellektueller Entwicklung durch NFIB-Mutation","synonyms":["MACID"]},"es":{"name":"Síndrome de retraso del desarrollo-macrocefalia-disgenesia del cuerpo calloso-discapacidad intelectual por una mutación en NFIB"},"it":{"name":"Sindrome ritardo dello sviluppo-macrocefalia-disgenesia del corpo calloso-disabilità intellettiva da mutazione di NFIB"},"nl":{"name":"Ontwikkelingsachterstand - macrocefalie - dysgenesie van corpus callosum - intellectuele achterstand-syndroom door NFIB-mutatie"},"pt":{"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation"},"pl":{"name":"Zespół opóźnienia rozwoju, makrocefalii, dysgenezji spoidła wielkiego i niepełnosprawności intelektualnej spowodowany mutacją NFIB"},"cs":{"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation"}},"xrefs":[{"source":"OMIM","code":"618286","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":714404,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"NFIB","name":"nuclear factor I B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30388402[PMID]_36756855[PMID]","hgnc":"7785","ensembl":"ENSG00000147862","omim":"600728","loci":["9p23-p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}