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progressive myoclonus epilepsy 8
Summary
- Synonym
-
- EMP8
- PME type 8
- progressive myoclonic epilepsy due to CERS1 deficiency
- progressive myoclonus epilepsy type 8
- Definition
- A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.
- Super Class
- autosomal recessive disease progressive myoclonus epilepsy
External Links
- Disease Ontology
- DOID:0111451
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002070 | Limb ataxia |
| HP:0001249 | Intellectual disability |
| HP:0003593 | Infantile onset |
| HP:0001272 | Cerebellar atrophy |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0001263 | Global developmental delay |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0000726 | Dementia |
| HP:0001336 | Myoclonus |
