neonatal glycine encephalopathy
MONDO:0017353Mondo
Findings
No curated finding names neonatal glycine encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0017353), read 2026-09-29. CC BY 4.0.
Genes
3 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.
Where it sits
- A kind of
Other names
3 names
Resolves to: neonatal glycine encephalopathy
- Also called
- classic glycine encephalopathyneonatal NKHneonatal non-ketotic hyperglycinemia