B3GALT6-congenital disorder of glycosylation
MONDO:0100586Mondo
Findings
No curated finding names B3GALT6-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 B3GALT6.
Definition from the Mondo Disease Ontology (MONDO:0100586), 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.
- B3GALT6HGNC:17978
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: B3GALT6-congenital disorder of glycosylation
- Also called
- B3GALT6-CDGB3GALT6-related congenital disorder of glycosylation