myoclonus, familial, 2
MONDO:0100092Mondo
Findings
No curated finding names myoclonus, familial, 2 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
- Nonprogressive
HPO, annotations 2026-09-02
Features
5 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.
- Limb myoclonusHPOHP:0045084
- 5 of 5 reported patients · Juvenile onset
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- DystoniaHPOHP:0001332
- 0 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 2 reported patients
- SeizureHPOHP:0001250
- 0 of 2 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.
- SCN8AHGNC:10596
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: myoclonus, familial, 2
- Also called
- MYOCL2