developmental and epileptic encephalopathy, 54
MONDO:0033363Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 54 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
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.
- Atonic seizureHPOHP:0010819
- 1 of 1 reported patient
- Atypical absence seizureHPOHP:0007270
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- Status epilepticus without prominent motor symptomsHPOHP:0031475
- 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.
- HNRNPUHGNC:5048
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 54
- Also called
- DEE54developmental and epileptic encephalopathy 54EIEE54epileptic encephalopathy, early infantile, 54HNRNPU-Related Disorder