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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

MIM:616540

ORDO:457265

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

is_a progressive myoclonus epilepsy

is_a autosomal recessive disease

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