Term Name: | progressive myoclonus epilepsy 1A |
---|---|
Synonyms: | EPM1A |
Definition: | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. |
Ontology: | Human Disease [DOID:0111452] ( DOID:0111452 ) |