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Disease Ontology Browser
progressive myoclonus epilepsy 9 (DOID:0111450)
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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 LMNB2 on chromosome 19p13.3.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory