epilepsy, familial adult myoclonic, 4
MONDO:0014055Mondo
Findings
No curated finding names epilepsy, familial adult myoclonic, 4 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 · Nonprogressive · Young adult onset
HPO, annotations 2026-09-02
Features
8 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.
- Enhancement of the C-reflexHPOHP:0001340
- 11 of 11 reported patients
- Jerk-locked premyoclonus spikesHPOHP:0001351
- 2 of 2 reported patients
- MyoclonusHPOHP:0001336
- 13 of 13 reported patients
- TremorHPOHP:0001337
- 13 of 13 reported patients
- EEG with polyspike wave complexesHPOHP:0002392
- 7 of 10 reported patients
- SeizureHPOHP:0001250
- 7 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 13 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
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.
- YEATS2HGNC:25489
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: epilepsy, familial adult myoclonic, 4
- Also called
- epilepsy, myoclonic, familial adult, 4FAME4