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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:0001266 | Choreoathetosis |
| HP:0002527 | Falls |
| HP:0000750 | Delayed speech and language development |
| HP:0010852 | EEG with photoparoxysmal response |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000639 | Nystagmus |
| HP:0002078 | Truncal ataxia |
| HP:0001260 | Dysarthria |
| HP:0003676 | Progressive |
| HP:0001288 | Gait disturbance |
