Metadata | |
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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 |