Term Name: progressive myoclonus epilepsy 9
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 )

Relationships
is a type of: autosomal recessive disease progressive myoclonus epilepsy