developmental and epileptic encephalopathy 92
MONDO:0020631Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 92 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
4 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.
- Epileptic encephalopathyHPOHP:0200134
- 11 of 11 reported patients
- SeizureHPOHP:0001250
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 11 reported patients
- Secondary microcephalyHPOHP:0005484
- 6 of 11 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.
- GABRB2HGNC:4082
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: developmental and epileptic encephalopathy 92
- Also called
- DEE92epileptic encephalopathy, infantile or early childhood, 2IECEE2