| Metadata | |
|---|---|
| ID | DOID:0111452 |
| Name | progressive myoclonus epilepsy 1A |
| Definition | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/8596935 |
| Xrefs | |
| Synonyms |
EPM1A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |