infantile glycine encephalopathy
MONDO:0017354Mondo
Findings
No curated finding names infantile glycine encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.
Definition from the Mondo Disease Ontology (MONDO:0017354), read 2026-09-29. CC BY 4.0.
Genes
4 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
4 names
Resolves to: infantile glycine encephalopathy
- Also called
- glycine encephalopathy of infancyinfantile NKHinfantile non-ketotic hyperglycinemiainfantile onset glycine encephalopathy