| Metadata | |
|---|---|
| ID | DOID:0111445 |
| Name | progressive myoclonus epilepsy 10 |
| Definition | A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. https://www.ncbi.nlm.nih.gov/pubmed/22961547 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
early-onset Lafora body disease [EXACT] EPM10 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |