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Human Disease

paroxysmal nonkinesigenic dyskinesia 1

Term ID
DOID:0090049
Synonyms
Definition
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (2)
References
Ontology
Human Disease   ( DOID:0090049 )
Relationships
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Genes Involved
Zebrafish Models