torsion dystonia 17
MONDO:0012895Mondo
Findings
No curated finding names torsion dystonia 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.
Definition from the Mondo Disease Ontology (MONDO:0012895), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- DysphoniaHPOHP:0001618
- Very frequent (80% to 99% of cases)
- Generalized dystoniaHPOHP:0007325
- Very frequent (80% to 99% of cases)
- Craniofacial dystoniaHPOHP:0012179
- Frequent (30% to 79% of cases)
- TorticollisHPOHP:0000473
- Frequent (30% to 79% of cases)
Reported absent (2)
- Cerebral cortical atrophyHPOHP:0002120
- ParkinsonismHPOHP:0001300
Where it sits
Other names
2 names
Resolves to: torsion dystonia 17
- Also called
- dystonia-17, primary torsiontorsion dystonia type 17