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DO Term : progressive myoclonus epilepsy 10 [DOID:0111445] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:324290,
  • EPM10,
  • early-onset Lafora body disease,
  • 616640,
  • OMIM:616640
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