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Statements

Subject Item

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n5:ECO_0007637 n5:ECO_0007636

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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.

obo:hasDbXref

url:https://www.omim.org/entry/314250 url:https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism