cerebellar atrophy with seizures and variable developmental delay

Term ID

DOID:0070741

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. (2)

References

• MIM:618501
• UMLS_CUI:C5193132

Ontology

Human Disease   ( DOID:0070741 )