{"orpha":699844,"name":"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DYNC1I2-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699844/","orphanet_url":"https://www.orpha.net/en/disease/detail/699844","names":{"fr":{"name":"Syndrome de microcéphalie-hypoplasie du corps calleux-gyration simplifiée-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à DYNC1I2"]},"de":{"name":"Mikrozephalie-Corpus callosum-Hypoplasie-vereinfachtes Gyralmuster-Intelligenzminderung-Syndrom","synonyms":["Neurologische Entwicklungsstörung, DYNC1I2-assoziierte"]},"es":{"name":"Síndrome de microcefalia-hipoplasia del cuerpo calloso-patrón giral simplificado-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a DYNC1I2"]},"it":{"name":"Sindrome microcefalia-ipoplasia del corpo calloso-semplificazione delle circonvoluzioni-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a DYNC1I2"]},"nl":{"name":"Microcefalie - hypoplasie van corpus callosum - verminderd aantal gyri - intellectuele achterstand-syndroom","synonyms":["DYNC1I2-gerelateerde neurologische ontwikkelingsstroonis"]},"pt":{"name":"Microcephaly-hypoplasia of the corpus callosum-simplified gyral pattern-intellectual disability syndrome"},"pl":{"name":"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome","synonyms":["DYNC1I2-related neurodevelopmental disorder"]},"cs":{"name":"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome","synonyms":["DYNC1I2-related neurodevelopmental disorder"]}},"xrefs":[],"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":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]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"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}