developmental and epileptic encephalopathy, 78
MONDO:0032812Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 78 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.
- ChoreaHPOHP:0002072
- 1 of 1 reported patient · Infantile onset
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypothermiaHPOHP:0002045
- 1 of 1 reported patient · Neonatal onset
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient · Neonatal onset
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient · Infantile onset
- SeizureHPOHP:0001250
- 1 of 1 reported patient · Neonatal onset
- 1 of 1 reported patient · Infantile onset
- 5 of 5 reported patients · Infantile onset
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient · Infantile onset
- MicrocephalyHPOHP:0000252
- 11 of 15 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- Status epilepticusHPOHP:0002133
- 3 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 4 reported patients
- Cerebral palsyHPOHP:0100021
Show the remaining 5
- Cerebral visual impairmentHPOHP:0100704
- CNS hypomyelinationHPOHP:0003429
- Generalized hypotoniaHPOHP:0001290
- Inability to walkHPOHP:0002540
- 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.
- GABRA2HGNC:4076
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 78
- Also called
- DEE78developmental and epileptic encephalopathy 78EIEE78EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78