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DO Term : paroxysmal nonkinesigenic dyskinesia 3 [DOID:0070442] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.
  • synonyms:
  • 609446,
  • generalized epilepsy and paroxysmal dyskinesia,
  • ORDO:79137,
  • OMIM:609446
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