Search Ontology:
Human Disease

dystonia 9

Term ID
DOID:0090044
Synonyms
  • paroxysmal choreoathetosis with spasticity
Definition
A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (3)
References
Ontology
Human Disease   ( DOID:0090044 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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