developmental and epileptic encephalopathy, 28
Findings
No curated finding names developmental and epileptic encephalopathy, 28 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.
Definition from the Mondo Disease Ontology (MONDO:0014533), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
45 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 5 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Cerebral calcificationHPOHP:0002514
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 24 of 24 reported patients
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 27 of 27 reported patients
- Global developmental delayHPOHP:0001263
Show the remaining 33
- Simplified gyral patternHPOHP:0009879
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- HypokinesiaHPOHP:0002375
- 20 of 25 reported patients
- Reduced eye contactHPOHP:0000817
- 19 of 25 reported patients
- SpasticityHPOHP:0001257
- 13 of 19 reported patients
- Thin corpus callosumHPOHP:0033725
- 17 of 25 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.
- WWOXHGNC:12799
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
9 names
Resolves to: developmental and epileptic encephalopathy, 28
- Also called
- DEE28developmental and epileptic encephalopathy 28early infantile epileptic encephalopathy caused by mutation in WWOXEIEE28epileptic encephalopathy, early infantile, 28epileptic encephalopathy, early infantile, type 28WOREE syndromeWWOX early infantile epileptic encephalopathyWWOX-related epileptic encephalopathy