developmental and epileptic encephalopathy 120
MONDO:0980948Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 120 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
40 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.
- AgyriaHPOHP:0031882
- 1 of 1 reported patient
- Atonic seizureHPOHP:0010819
- 2 of 2 reported patients
- Atypical absence seizureHPOHP:0007270
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 4 of 4 reported patients
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 6 of 6 reported patients
- EEG with generalized polyspikesHPOHP:0012001
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 2 of 2 reported patients
Show the remaining 28
- Eyelid myoclonia seizureHPOHP:0032678
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Myoclonic seizureHPOHP:0032794
- 3 of 3 reported patients