developmental and epileptic encephalopathy 118
MONDO:0979238Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 118 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
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
62 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.
- Abnormal CNS myelinationHPOHP:0011400
- 5 of 5 reported patients
- AlopeciaHPOHP:0001596
- 1 of 1 reported patient
- Aplastic anemiaHPOHP:0001915
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 4 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 4 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 8 of 8 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 7 of 7 reported patients
- CholecystitisHPOHP:0001082
- 1 of 1 reported patient
- ColpocephalyHPOHP:0030048
- 2 of 2 reported patients
Show the remaining 50
- Conjunctival icterusHPOHP:0032106
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 11 of 11 reported patients
- EEG abnormalityHPOHP:0002353
- 17 of 17 reported patients