progressive myoclonus epilepsy 9 (DOID:0111450)
Alliance: disease page
Synonyms: EMP9; PME type 9; progressive myoclonic epilepsy due to LMNB2 deficiency; progressive myoclonus epilepsy type 9
Alt IDs: OMIM:616540, ORDO:457265
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.