Term Name: | progressive myoclonus epilepsy 9 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111450] ( DOID:0111450 ) |