Version: 8.0.0
Date: Tue Jan 28 2025
torsion dystonia 6
DOID:0090039
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

torsion dystonia 6

Definition
A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.
Synonyms
None
Cross References
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Sources of Associations

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      Associated Models

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