{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-199639/","orphanet_url":"https://www.orpha.net/en/disease/detail/199639","names":{"fr":{"name":"Syndrome avec une agénésie/dysgénésie du corps calleux comme manifestation majeure"},"de":{"name":"Syndrom mit Corpus callosum-Agenesie als Hauptmerkmal"},"es":{"name":"Síndrome con agenesia/disgenesia del cuerpo calloso como característica principal"},"it":{"name":"Sindrome con agenesia/disgenesia del corpo calloso come segno cardinale"},"nl":{"name":"Syndroom met agenesie/dysgenesie van corpus callosum als hoofdkenmerk"},"pt":{"name":"Síndrome com agenesia do corpo caloso/disgenesia como característica principal"},"pl":{"name":"Zespół z agnezją/dysgenezją ciała modzelowatego jak głównym objawem"},"cs":{"name":"Syndromy s agenezí/dysgenezí corpus callosum jako hlavním příznakem"},"uk":{"name":"Синдром з агенезією/дисгенезією мозолистого тіла як основною ознакою"},"zh":{"name":"以胼胝体未发育/发育不全为主要特征的综合征"},"tr":{"name":"Esas klinik özelliği korpus kallozum agenezi/disgenezi olan sendrom"}},"xrefs":[{"source":"MONDO","code":"16055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680521","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729560,"name":"Forebrain malformation","classifications":[147,181]}],"children":[{"orpha":423655,"name":"ARX-related encephalopathy-brain malformation spectrum","type":"Clinical group"},{"orpha":36,"name":"Acrocallosal syndrome","type":"Clinical subtype"},{"orpha":50,"name":"Aicardi syndrome","type":"Disease"},{"orpha":52055,"name":"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","type":"Malformation syndrome"},{"orpha":459074,"name":"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome","type":"Malformation syndrome"},{"orpha":1496,"name":"Corpus callosum agenesis-neuronopathy syndrome","type":"Disease"},{"orpha":1553,"name":"Curry-Jones syndrome","type":"Malformation syndrome"},{"orpha":714404,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":708171,"name":"Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy","type":"Malformation syndrome"},{"orpha":724143,"name":"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome","type":"Malformation syndrome"},{"orpha":726684,"name":"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome","type":"Malformation syndrome"},{"orpha":457284,"name":"Houge-Janssens syndrome type 2","type":"Clinical subtype"},{"orpha":447893,"name":"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome","type":"Clinical subtype"},{"orpha":1495,"name":"Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome","type":"Malformation syndrome"},{"orpha":694937,"name":"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency","type":"Malformation syndrome"},{"orpha":275543,"name":"L1 syndrome","type":"Malformation syndrome"},{"orpha":83473,"name":"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","type":"Malformation syndrome"},{"orpha":2510,"name":"Micro syndrome","type":"Malformation syndrome"},{"orpha":500159,"name":"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":699844,"name":"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":171703,"name":"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome","type":"Malformation syndrome"},{"orpha":1083,"name":"Microlissencephaly","type":"Morphological anomaly"},{"orpha":466688,"name":"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome","type":"Malformation syndrome"},{"orpha":1777,"name":"Temtamy syndrome","type":"Malformation syndrome"},{"orpha":3338,"name":"Toriello-Carey syndrome","type":"Malformation syndrome"},{"orpha":467166,"name":"Tubulinopathy-associated dysgyria","type":"Disease"},{"orpha":1493,"name":"Vici syndrome","type":"Malformation syndrome"},{"orpha":3207,"name":"White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}