| Term Name: | cerebellar atrophy with seizures and variable developmental delay |
|---|---|
| Synonyms: | CASVDD |
| Definition: | An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21. |
| Ontology: | Human Disease [DOID:0070741] ( DOID:0070741 ) |