developmental and epileptic encephalopathy, 67
MONDO:0029138Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 67 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 · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- EEG abnormalityHPOHP:0002353
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 6 of 9 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 5 of 9 reported patients
- Recurrent hand flappingHPOHP:0100023
- 3 of 9 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 9 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 9 reported patients
- AthetosisHPOHP:0002305
- 1 of 9 reported patients
- Atonic seizureHPOHP:0010819
- 1 of 9 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 9 reported patients
Show the remaining 7
- DyskinesiaHPOHP:0100660
- 1 of 9 reported patients
- DystoniaHPOHP:0001332
- 1 of 9 reported patients
- Focal hemiclonic seizureHPOHP:0006813
- 1 of 9 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 9 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 9 reported patients
- Epileptic encephalopathyHPOHP:0200134
- Gait disturbanceHPO
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.
- CUX2HGNC:19347
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 67
- Also called
- DEE67developmental and epileptic encephalopathy 67EIEE67epileptic encephalopathy, early infantile, 67