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Disease Ontology Browser
progressive myoclonus epilepsy 10 (DOID:0111445)
Alliance: disease page
Synonyms: early-onset Lafora body disease; EPM10
Alt IDs: OMIM:616640, ORDO:324290
Definition: A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21.


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
02/27/2024
MGI 6.23
The Jackson Laboratory