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cerebellar atrophy, developmental delay, and seizures (DOID:0070740)
Alliance: disease page
Synonyms: CADEDS
Alt IDs: OMIM:617643, UMLS_CUI:C4539985
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
06/09/2026
MGI 6.24 		The Jackson Laboratory