Progressive Myoclonus Epilepsy 10
Disease ID: disease_node_16299
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616640, ORDO:324290 |
|---|---|
| Subclassof | DOID_891, DOID_0050737 |
| Data Source | DOID |
| Synonyms | EPM10, early-onset Lafora body disease |
| Doid Label | progressive myoclonus epilepsy 10 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16299 |
| Doid Id | DOID_0111445 |
| Label | Progressive Myoclonus Epilepsy 10 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)