episodic kinesigenic dyskinesia 3
MONDO:0859380Mondo
Findings
No curated finding names episodic kinesigenic dyskinesia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
4 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
- 17 of 21 reported patients
- Involuntary movementsHPOHP:0004305
- 3 of 4 reported patients
- TorticollisHPOHP:0000473
- 1 of 4 reported patients
- ChoreoathetosisHPOHP:0001266
- 3 of 17 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.
- TMEM151AHGNC:28497
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of