| Disease ID | Source | Name | Description |
| 616640 | OMIM | Epilepsy, progressive myoclonic 10 (EPM10) | A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients. The disease is caused by variants affecting the gene represented in this entry. |