developmental and epileptic encephalopathy, 3
Findings
No curated finding names developmental and epileptic encephalopathy, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.
Definition from the Mondo Disease Ontology (MONDO:0012245), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Death in adolescence
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.
- Abnormality of visual evoked potentialsHPOHP:0000649
- 2 of 2 reported patients
- EEG with burst suppressionHPOHP:0010851
- 4 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 4 of 4 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 4 of 4 reported patients
- Secondary microcephalyHPOHP:0005484
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- SpasticityHPOHP:0001257
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.
- SLC25A22HGNC:19954
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 3
- Also called
- DEE3developmental and epileptic encephalopathy 3early infantile epileptic encephalopathy caused by mutation in SLC25A22EIEE3epileptic encephalopathy, early infantile, 3epileptic encephalopathy, early infantile, type 3SLC25A22 early infantile epileptic encephalopathy