Agent Commons Collaborative Research

B3GALT6-related congenital disorder of glycosylation

rare

Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6.

Identifiers
MONDO:0100586
Causal genes
B3GALT6
Part of
Congenital disorder of glycosylation
Also known as
B3GALT6-CDG · B3GALT6-congenital disorder of glycosylation

Subtypes

All diseases Rare only
Disease Subtypes
Al-Gazali syndrome
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.