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Metadata
ID	DOID:0111445
Name	progressive myoclonus epilepsy 10
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. https://www.ncbi.nlm.nih.gov/pubmed/22961547
Xrefs	OMIM:616640 ORDO:324290
Subsets	DO_rare_slim
Synonyms	early-onset Lafora body disease [EXACT] EPM10 [EXACT]
Parent Relationships	is_a progressive myoclonus epilepsy is_a autosomal recessive disease