Term Name: torsion dystonia 6
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 )

Relationships
is a type of: autosomal dominant disease generalized dystonia