developmental and epileptic encephalopathy, 56
MONDO:0033365Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 56 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
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.
- EEG abnormalityHPOHP:0002353
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- EEG with polyspike wave complexesHPOHP:0002392
- 1 of 2 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 4 reported patients
- ScoliosisHPOHP:0002650
- 2 of 4 reported patients
- Action tremorHPOHP:0002345
- 1 of 4 reported patients
- AtaxiaHPOHP:0001251
- 1 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- Focal motor seizureHPOHP:0011153
- 1 of 4 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 4 reported patients
Show the remaining 5
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- IncoordinationHPOHP:0002311
- 1 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 4 reported patients
- Obsessive-compulsive traitHPOHP:0008770
- 1 of 4 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 4 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.
- YWHAGHGNC:12852
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 56
- Also called
- DEE56developmental and epileptic encephalopathy 56EIEE56epileptic encephalopathy, early infantile, 56infantile epileptic encephalopathy 56