cerebellar atrophy, developmental delay, and seizures

Term ID

DOID:0070740

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. (2)

References

• MIM:617643
• UMLS_CUI:C4539985

Ontology

Human Disease   ( DOID:0070740 )