developmental and epileptic encephalopathy, 57
MONDO:0033366Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 57 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
10 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.
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Profound global developmental delayHPOHP:0012736
- 1 of 1 reported patient
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Staring gazeHPOHP:0025401
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
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.
- KCNT2HGNC:18866
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 57
- Also called
- DEE57developmental and epileptic encephalopathy 57EIEE57epileptic encephalopathy, early infantile, 57infantile epileptic encephalopathy 57