developmental and epileptic encephalopathy, 59
MONDO:0033368Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 59 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
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
- 2 of 2 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 2 of 2 reported patients
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Focal clonic seizureHPOHP:0002266
- 1 of 2 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 2 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 1 of 2 reported patients
Show the remaining 4
- Poor head controlHPOHP:0002421
- 1 of 2 reported patients
- Self-injurious behaviorHPOHP:0100716
- 1 of 2 reported patients
- Sleep disturbanceHPOHP:0002360
- 1 of 2 reported patients
- Tonic seizureHPOHP:0032792
- 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.
- GABBR2HGNC:4507
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 59
- Also called
- DEE59developmental and epileptic encephalopathy 59EIEE59epileptic encephalopathy, early infantile, 59infantile epileptic encephalopathy 59