Syndrome

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Syndrome with corpus callosum agenesis/dysgenesis as a major feature

ORPHA:199639Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

AKT3C12ORF57CCND2DDX3XEOMESEPG5FRMD4AGLI3IGBP1KAT5KIF7NUDT2PIK3R2POLR3APPP2R1ARAB18RAB3GAP1RAB3GAP2RAC1SLC12A6SMOTBC1D20TUBA1ATUBB2BTUBB3WIPI2WWOX

Orphanet records these genes on 19 more specific entries under this disorder, not on this entry itself:

Acrocallosal syndromeCorpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeCorpus callosum agenesis-neuronopathy syndromeCurry-Jones syndromeFacial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathyGlobal developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndromeGlobal developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndromeHouge-Janssens syndrome type 2Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndromeIntellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiencyMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeMicrocephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromeMicrocephaly-polymicrogyria-corpus callosum agenesis syndromeMicro syndromeSevere intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeTemtamy syndromeToriello-Carey syndromeTubulinopathy-associated dysgyriaVici syndrome

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 16055UMLS C5680521

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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