developmental and epileptic encephalopathy 96
MONDO:0023659Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 96 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
- Death in infancy
HPO, annotations 2026-09-02
Features
9 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 with burst suppressionHPOHP:0010851
- 2 of 2 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 2 of 2 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 2 of 2 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 1 of 2 reported patients
- Hydrops fetalisHPOHP:0001789
- 1 of 2 reported patients
- Primary microcephalyHPOHP:0011451
- 1 of 2 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 2 reported patients
- Tonic seizureHPOHP:0032792
- 1 of 2 reported patients
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.
- NSFHGNC:8016
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 96
- Also called
- DEE96