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DO Term : progressive myoclonus epilepsy 9 [DOID:0111450] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 the LMNB2 gene on chromosome 19p13.3.
  • synonyms:
  • PME type 9,
  • progressive myoclonus epilepsy type 9,
  • 616540,
  • ORDO:457265,
  • progressive myoclonic epilepsy due to LMNB2 deficiency,
  • OMIM:616540,
  • EMP9
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