developmental and epileptic encephalopathy, 15
MONDO:0014003Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 15 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
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Severe global developmental delayHPOHP:0011344
- 4 of 4 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- Focal clonic seizureHPOHP:0002266
- 1 of 4 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 4 reported patients
- Tonic seizureHPOHP:0032792
- 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.
- ST3GAL3HGNC:10866
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 15
- Also called
- DEE15developmental and epileptic encephalopathy 15EIEE15epileptic encephalopathy, early infantile, 15epileptic encephalopathy, early infantile, type 15