cerebellar atrophy, developmental delay, and seizures

An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in

An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22.

Signs and symptoms

• EEG abnormality
• Delayed speech and language development
• Cerebellar atrophy
• Global developmental delay
• Generalized hypotonia
• Myoclonic seizure
• Bilateral tonic-clonic seizure with focal onset

Also known as: CADEDS