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Human Disease

X-linked dystonia-parkinsonism

Term ID
DOID:0090057
Synonyms
Definition
A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. (2)
References
Ontology
Human Disease   ( DOID:0090057 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations