dystonia 33
MONDO:0030513Mondo
Findings
No curated finding names dystonia 33 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- DystoniaHPOHP:0001332
- 12 of 12 reported patients
- Limb dystoniaHPOHP:0002451
- 9 of 12 reported patients
- Axial dystoniaHPOHP:0002530
- 3 of 12 reported patients
- Babinski signHPOHP:0003487
- 3 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 12 reported patients
- SpasticityHPOHP:0001257
- 2 of 12 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 12 reported patients
- Neonatal seizureHPOHP:0032807
- 1 of 12 reported patients · Neonatal onset
- Pes cavusHPOHP:0001761
- 1 of 12 reported patients
- Vertical supranuclear gaze palsyHPOHP:0000511
- 1 of 12 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.
- EIF2AK2HGNC:9437
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: dystonia 33
- Also called
- DYT33