developmental and epileptic encephalopathy, 71
MONDO:0032678Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 71 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital 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.
- EEG with burst suppressionHPOHP:0010851
- 3 of 3 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Respiratory failureHPOHP:0002878
- 3 of 4 reported patients
- Simplified gyral patternHPOHP:0009879
- 2 of 3 reported patients
- CNS demyelinationHPOHP:0007305
- 1 of 3 reported patients
- GliosisHPOHP:0002171
- 1 of 3 reported patients
- Cheyne-Stokes respirationHPOHP:0012196
- 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.
- GLSHGNC:4331
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 71
- Also called
- DEE71developmental and epileptic encephalopathy 71EIEE71epileptic encephalopathy, early infantile, 71neonatal epileptic encephalopathy due to glutaminase deficiency