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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder