dystonia 30
MONDO:0025691Mondo
Findings
No curated finding names dystonia 30 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
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
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.
- DystoniaHPOHP:0001332
- 19 of 19 reported patients
- TorticollisHPOHP:0000473
- 5 of 19 reported patients
- Globus pallidus hypointensity on susceptibility-weighted imagingHPOHP:0033049
- 4 of 16 reported patients
- Diffuse cerebral atrophyHPOHP:0002506
- 4 of 19 reported patients
- Arm dystoniaHPOHP:0031960
- 3 of 19 reported patients
- Leg dystoniaHPOHP:0031959
- 3 of 19 reported patients
- Loss of ambulationHPOHP:0002505
- 3 of 19 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 3 of 19 reported patients
- Oromandibular dystoniaHPOHP:0012048
- 3 of 19 reported patients
- Writer's crampHPOHP:0002356
- 3 of 19 reported patients
- ImpulsivityHPOHP:0100710
- 2 of 19 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 19 reported patients
Show the remaining 5
- SeizureHPOHP:0001250
- 2 of 19 reported patients
- Hypothalamic hamartomaHPOHP:0002444
- 1 of 16 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 19 reported patients
- Bipolar affective disorderHPOHP:0007302
- 1 of 19 reported patients
- Compulsive behaviorsHPOHP:0000722
- 1 of 19 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.
- VPS16HGNC:14584
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: dystonia 30
- Also called
- DYT30