developmental and epileptic encephalopathy, 74
MONDO:0032725Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 74 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Absent speechHPOHP:0001344
- 8 of 8 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 8 of 8 reported patients
- Severe global developmental delayHPOHP:0011344
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 6 of 8 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 8 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 3 of 8 reported patients
- NystagmusHPOHP:0000639
- 3 of 8 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 8 reported patients
- Atypical absence seizureHPOHP:0007270
- 2 of 8 reported patients
- ChoreoathetosisHPOHP:0001266
- 2 of 8 reported patients
- Tonic seizureHPOHP:0032792
- 2 of 8 reported patients
- Typical absence seizureHPOHP:0011147
- 2 of 8 reported patients
Show the remaining 4
- Delayed CNS myelinationHPOHP:0002188
- 1 of 8 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 8 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 8 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 8 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.
- GABRG2HGNC:4087
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 74
- Also called
- DEE74developmental and epileptic encephalopathy 74EIEE74EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74