A4GALT-congenital disorder of glycosylation
MONDO:0100587Mondo
Findings
No curated finding names A4GALT-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital disorder of glycosylation in which the cause of the disease is a mutation in A4GALT.
Definition from the Mondo Disease Ontology (MONDO:0100587), read 2026-09-29. CC BY 4.0.
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.
- A4GALTHGNC:18149
- Definitive · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: A4GALT-congenital disorder of glycosylation
- Also called
- A4GALT-CDGA4GALT-related congenital disorder of glycosylation