| 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 ) |