developmental and epileptic encephalopathy 94
MONDO:0014150Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 94 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
17 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.
- Developmental regressionHPOHP:0002376
- 6 of 6 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 6 reported patients
- EEG with generalized polyspikesHPOHP:0012001
- 4 of 6 reported patients
- EEG with generalized spikesHPOHP:0012000
- 4 of 6 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 4 of 6 reported patients
- Atonic seizureHPOHP:0010819
- 3 of 6 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 6 reported patients
- Visually-induced seizureHPOHP:0020216
- 3 of 6 reported patients
Show the remaining 5
- Status epilepticusHPOHP:0002133
- 2 of 6 reported patients
- Status epilepticus without prominent motor symptomsHPOHP:0031475
- 2 of 6 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 6 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 6 reported patients
- Epileptic encephalopathyHPOHP:0200134
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.
- CHD2HGNC:1917
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: developmental and epileptic encephalopathy 94
- Also called
- CHCHD10-Related Disorderschildhood onset epileptic encephalopathyDEE94EEOC