glycine encephalopathy 2
MONDO:0958192Mondo
Findings
No curated finding names glycine encephalopathy 2 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
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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
- 1 of 1 reported patient
- Increased CSF glycine concentrationHPOHP:0500230
- 1 of 1 reported patient
- Mild global developmental delayHPOHP:0011342
- 1 of 1 reported patient
- Nonketotic hyperglycinemiaHPOHP:0008288
- 16 of 16 reported patients
- Respiratory failureHPOHP:0002878
- 14 of 14 reported patients · Neonatal onset
- SeizureHPOHP:0001250
- 14 of 14 reported patients · Neonatal onset
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
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.
- AMTHGNC:473
- Definitive · G2P · Autosomal recessive · 2015
Where it sits
- A kind of