dyskinesia with orofacial involvement, autosomal recessive
MONDO:0030625Mondo
Findings
No curated finding names dyskinesia with orofacial involvement, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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 hypotoniaHPOHP:0008936
- 6 of 6 reported patients
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- DystoniaHPOHP:0001332
- 8 of 8 reported patients
- Motor delayHPOHP:0001270
- 4 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 8 reported patients
- MyoclonusHPOHP:0001336
- 5 of 8 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 2 reported patients
- HypothyroidismHPOHP:0000821
- 2 of 6 reported patients
- TremorHPOHP:0001337
- 2 of 6 reported patients
- CardiomyopathyHPOHP:0001638
- 1 of 6 reported patients
Where it sits
Other names
1 name
Resolves to: dyskinesia with orofacial involvement, autosomal recessive
- Also called
- DSKOR