{"orpha":714404,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714404/","orphanet_url":"https://www.orpha.net/en/disease/detail/714404","names":{"fr":{"name":"Syndrome de retard de développement-macrocéphalie-dysgénésie du corps calleux-déficience intellectuelle"},"de":{"name":"Entwicklungsverzögerung-Makrozephalie-Corpus Callosum-Dysgenesie-Intelligenzminderung-Syndrom"},"es":{"name":"Síndrome de retraso del desarrollo-macrocefalia-disgenesia del cuerpo calloso-discapacidad intelectual"},"it":{"name":"Sindrome ritardo dello sviluppo-macrocefalia-disgenesia del corpo calloso-disabilità intellettiva"},"nl":{"name":"Ontwikkelingsachterstand - macrocefalie - dysgenesie van corpus callosum - intellectuele achterstand-syndroom"},"pt":{"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome"},"pl":{"name":"Zespół opóźnienia rozwoju, makrocefalii, dysgenezji spoidła wielkiego i niepełnosprawności intelektualnej"},"cs":{"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome"}},"xrefs":[{"source":"OMIM","code":"618286","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":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"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":[{"orpha":714413,"name":"9p23p22.2 microdeletion syndrome","type":"Etiological subtype"},{"orpha":714407,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":714407,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation"}},{"symbol":"NFIB","name":"nuclear factor I B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"36756855[PMID]","hgnc":"7785","ensembl":"ENSG00000147862","omim":"600728","loci":["9p23-p22.3"],"via":{"orpha":714413,"name":"9p23p22.2 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"30388402[PMID]_36756855[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30388402[PMID]_36756855[PMID]_ORPHANET"}],"phenotypes":null}