epilepsy, early-onset, with or without developmental delay
MONDO:0030005Mondo
Findings
No curated finding names epilepsy, early-onset, with or without developmental delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 4 reported patients · Infantile onset
- Hydrocele testisHPOHP:0000034
- 1 of 2 reported patients · Male
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 4 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 4 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.
- SETD1AHGNC:29010
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: epilepsy, early-onset, with or without developmental delay
- Also called
- EPEDD