| Metadata | |
|---|---|
| ID | DOID:0111450 |
| Name | progressive myoclonus epilepsy 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. https://www.ncbi.nlm.nih.gov/pubmed/25954030 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
EMP9 [EXACT] PME type 9 [EXACT] progressive myoclonic epilepsy due to LMNB2 deficiency [EXACT] progressive myoclonus epilepsy type 9 [EXACT] |
| Parent Relationships |