developmental and epileptic encephalopathy 6B
MONDO:0030268Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 6B 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
35 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 9 of 9 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients · Infantile onset
- HypotoniaHPOHP:0001252
- 9 of 9 reported patients
- Inability to walkHPOHP:0002540
- 9 of 9 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 9 of 9 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 9 of 9 reported patients
- Absent speechHPOHP:0001344
- 8 of 9 reported patients
- Myoclonic seizureHPOHP:0032794
- 7 of 9 reported patients
- Focal-onset seizureHPOHP:0007359
- 6 of 9 reported patients
- MyoclonusHPOHP:0001336
- 6 of 9 reported patients
- Axial hypotoniaHPOHP:0008936
- 5 of 9 reported patients
Show the remaining 23
- ChoreoathetosisHPOHP:0001266
- 5 of 9 reported patients
- Epileptic spasmHPOHP:0011097
- 5 of 9 reported patients
- Hypoplastic hippocampusHPOHP:0025517
- 5 of 9 reported patients
- Tonic seizureHPOHP:0032792
- 5 of 9 reported patients
- DystoniaHPOHP:0001332
- 4 of 9 reported patients
- Hyperkinetic movementsHPOHP:0002487
- 4 of 9 reported patients
Where it sits
Other names
2 names
Resolves to: developmental and epileptic encephalopathy 6B
- Also called
- DEE6Bdevelopmental and epileptic encephalopathy 6B, non-Dravet