Term Name: | torsion dystonia 6 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0090039] ( DOID:0090039 ) |