dystonia 27
MONDO:0014627Mondo
Findings
No curated finding names dystonia 27 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014627), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- TorticollisHPOHP:0000473
- 5 of 5 reported patients
- Laryngeal dystoniaHPOHP:0012049
- 2 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Oromandibular dystoniaHPOHP:0012048
- 3 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Writer's crampHPOHP:0002356
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Action tremorHPOHP:0002345
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
- Axial dystoniaHPOHP:0002530
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL6A3HGNC:2213
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Illumina · Autosomal recessive · 2021
- Disputed Evidence · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: dystonia 27
- Also called
- COL6A3 dystonic disorderdystonia type 27dystonic disorder caused by mutation in COL6A3