developmental and epileptic encephalopathy, 17
Findings
No curated finding names developmental and epileptic encephalopathy, 17 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 GNAO1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014199), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
14 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 4 of 4 reported patients
- Generalized tonic seizureHPOHP:0010818
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Inability to walkHPOHP:0002540
- 3 of 3 reported patients
- EEG with burst suppressionHPOHP:0010851
- 3 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
Show the remaining 2
- DystoniaHPOHP:0001332
- 1 of 4 reported patients
- Focal tonic seizureHPOHP:0011167
- 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.
- GNAO1HGNC:4389
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 17
- Also called
- DEE17developmental and epileptic encephalopathy 17early infantile epileptic encephalopathy caused by mutation in GNAO1early infantile epileptic encephalopathy-17EIEE17epileptic encephalopathy, early infantile, 17epileptic encephalopathy, early infantile, type 17GNAO1 early infantile epileptic encephalopathy