epilepsy, progressive myoclonic, 12
MONDO:0030936Mondo
Findings
No curated finding names epilepsy, progressive myoclonic, 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
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.
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- MyoclonusHPOHP:0001336
- 6 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 6 reported patients
- DysarthriaHPOHP:0001260
- 4 of 6 reported patients
- DysmetriaHPOHP:0001310
- 3 of 6 reported patients
- Mental deteriorationHPOHP:0001268
- 3 of 6 reported patients
- DepressionHPOHP:0000716
- 2 of 6 reported patients
- AnxietyHPOHP:0000739
- 1 of 6 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 6 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.
- SLC7A6OSHGNC:25807
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: epilepsy, progressive myoclonic, 12
- Also called
- EPM12