FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive myoclonus epilepsy 10 ID (Ontology) DOID:0111445 (Human Disease)
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.
Also Known As "early-onset Lafora body disease" ; "EPM10"
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 Genes
 progressive myoclonus epilepsy 10       1
 for disease ribbon | progressive myoclonus epilepsy 10       1
 model of | progressive myoclonus epilepsy 10       1
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variable age at onset electroclinical syndrome
 |__progressive myoclonus epilepsy__
autosomal genetic disease           |
 |__autosomal recessive disease_____|
                                    progressive myoclonus epilepsy 10  1 rec.
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Is a autosomal recessive disease
progressive myoclonus epilepsy
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Synonyms
  • "early-onset Lafora body disease" EXACT
    "EPM10" EXACT OMO:0003012
Secondary IDs
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MIM:616640
ORDO:324290