OBO ID: DOID:0090049
Term Name: paroxysmal nonkinesigenic dyskinesia 1 Search Ontology:
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)
OTHER paroxysmal nonkinesigenic dyskinesia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNKD Paroxysmal nonkinesigenic dyskinesia 1 118800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None