torsion dystonia 6

Term ID

DOID:0090039

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. https://ghr.nlm.nih.gov/condition/dystonia-6

References

• ICD10CM:G24.1
• MIM:602629
• ORDO:98806

Ontology

Human Disease   ( DOID:0090039 )