cerebellar atrophy with seizures and variable developmental delay

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 hetero

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.

Signs and symptoms

• Axial hypotonia
• Absent speech
• Seizure
• Generalized hypotonia
• Profound global developmental delay
• Reduced eye contact
• Inability to walk
• Strabismus
• Abnormality of eye movement
• Dysmetria

Also known as: CASVDD