C156361Level 11
Torsion Dystonia 6
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the THAP1 gene, encoding THAP domain-containing protein 1. It is characterized by dystonic craniofacial movements, dysarthria, and dysphagia. Limb involvement is common.
**Synonyms:** - DYT6
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