Term Name: cerebellar atrophy, developmental delay, and seizures
Synonyms: CADEDS
Definition: 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.
Ontology: Human Disease [DOID:0070740]   ( DOID:0070740 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder