developmental and epileptic encephalopathy
MONDO:0100620Mondo
Findings
No curated finding names developmental and epileptic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both.
Definition from the Mondo Disease Ontology (MONDO:0100620), read 2026-09-29. CC BY 4.0.
Genes
5 genes
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.
- ADAM22HGNC:201
- Definitive · ClinGen · Autosomal recessive · 2026
- PPP3CAHGNC:9314
- Definitive · ClinGen · Autosomal dominant · 2025
- MDGA2HGNC:19835
- Moderate · G2P · Autosomal recessive · 2026
- GRIN2AHGNC:4585
- Limited · PanelApp Australia · Autosomal recessive · 2025
- GUF1HGNC:25799
- Limited · ClinGen · Autosomal recessive · 2026
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy
- Also called
- DEE