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progressive myoclonus epilepsy 9
Summary
- Synonym
-
- EMP9
- PME type 9
- progressive myoclonic epilepsy due to LMNB2 deficiency
- progressive myoclonus epilepsy type 9
- Definition
- A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.
- Super Class
- autosomal recessive disease progressive myoclonus epilepsy
External Links
- Disease Ontology
- DOID:0111450
- Mondo Disease Ontology
- ORDO
- OMIM
