dystonia 24
MONDO:0014019Mondo
Findings
No curated finding names dystonia 24 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 ANO3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014019), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
12 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
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Limb tremorHPOHP:0200085
- 7 of 8 reported patients
- BlepharospasmHPOHP:0000643
- 1 of 8 reported patients
- Frequent (30% to 79% of cases)
- Limb dystoniaHPOHP:0002451
- Frequent (30% to 79% of cases)
- Vocal tremorHPOHP:0012477
- Frequent (30% to 79% of cases)
- Arm dystoniaHPOHP:0031960
- 4 of 8 reported patients
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.
- ANO3HGNC:14004
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2026
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: dystonia 24
- Also called
- ANO3 dystonic disorderdystonia type 24dystonic disorder caused by mutation in ANO3DYT-ANO3DYT24