developmental and epileptic encephalopathy, 79
MONDO:0032813Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 79 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
17 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.
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- Migrating focal seizureHPOHP:0032786
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient
- Secondary microcephalyHPOHP:0005484
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 2 of 2 reported patients · Infantile onset
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
Show the remaining 5
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 2 reported patients
- Frontotemporal cerebral atrophyHPOHP:0006892
- 1 of 2 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 2 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.
- GABRA5HGNC:4079
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 79
- Also called
- DEE79developmental and epileptic encephalopathy 79EIEE79EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79