dystonia 22, juvenile-onset
MONDO:0957539Mondo
Findings
No curated finding names dystonia 22, juvenile-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
14 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.
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Generalized dystoniaHPOHP:0007325
- 3 of 3 reported patients
- Laryngeal dystoniaHPOHP:0012049
- 3 of 3 reported patients
- Mental deteriorationHPOHP:0001268
- 3 of 3 reported patients · Adult onset
- Oromandibular dystoniaHPOHP:0012048
- 3 of 3 reported patients
- TorticollisHPOHP:0000473
- 3 of 3 reported patients
- Hypometric saccadesHPOHP:0000571
- 2 of 3 reported patients
- Slow saccadic eye movementsHPOHP:0000514
- 2 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 3 reported patients
- DysdiadochokinesisHPOHP:0002075
- 1 of 3 reported patients
- DysmetriaHPOHP:0001310
- 1 of 3 reported patients
Show the remaining 2
- Intention tremorHPOHP:0002080
- 1 of 3 reported patients
- Lower limb spasticityHPOHP:0002061
- 1 of 3 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.
- TSPOAP1HGNC:16831
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of