dystonia 23
MONDO:0013928Mondo
Findings
No curated finding names dystonia 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
17 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.
- Axial dystoniaHPOHP:0002530
- Frequent (30% to 79% of cases)
- Craniofacial dystoniaHPOHP:0012179
- Frequent (30% to 79% of cases)
- DysphoniaHPOHP:0001618
- Frequent (30% to 79% of cases)
- Focal dystoniaHPOHP:0004373
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Head tremorHPOHP:0002346
- Frequent (30% to 79% of cases)
- Limb tremorHPOHP:0200085
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Neck muscle hypertrophyHPOHP:0012893
- Frequent (30% to 79% of cases)
- TorticollisHPOHP:0000473
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Writer's crampHPOHP:0002356
- Frequent (30% to 79% of cases)
Show the remaining 5
- HyperventilationHPOHP:0002883
- Occasional (5% to 29% of cases)
- Panic attackHPOHP:0025269
- Occasional (5% to 29% of cases)
- Supraventricular arrhythmiaHPOHP:0005115
- Occasional (5% to 29% of cases)
- Cerebellar atrophyHPOHP:0001272
- Very rare (1% to 4% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very rare (1% to 4% 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.
- CIZ1HGNC:16744
- Moderate · Genomics England PanelApp · Unknown · 2021
Where it sits
Other names
2 names
Resolves to: dystonia 23
- Also called
- dystonia type 23DYT23