progressive myoclonus epilepsy 9

Summary

DOID:0111450 - progressive myoclonus epilepsy 9

Disease Ontology 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.

Synonyms: EMP9, PME type 9, progressive myoclonic epilepsy due to LMNB2 deficiency, progressive myoclonus epilepsy type 9,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lmnb2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), progressive myoclonus epilepsy (is_a)