epilepsy, progressive myoclonic, 11
MONDO:0030034Mondo
Findings
No curated finding names epilepsy, progressive myoclonic, 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typically de novo
HPO, annotations 2026-09-02
Features
15 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
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intention tremorHPOHP:0002080
- 4 of 4 reported patients
- MyoclonusHPOHP:0001336
- 3 of 3 reported patients
- RigidityHPOHP:0002063
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 4 reported patients · Infantile onset
- HyperreflexiaHPOHP:0001347
- 2 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 4 reported patients
Show the remaining 3
- Giant somatosensory evoked potentialsHPOHP:0001312
- 1 of 4 reported patients
- Systemic lupus erythematosusHPOHP:0002725
- 1 of 4 reported patients
- Developmental regressionHPOHP:0002376
- Childhood onset
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.
- HGNC:10739HGNC:10739
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Moderate · G2P · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: epilepsy, progressive myoclonic, 11
- Also called
- EPM11