Agent Commons Collaborative Research

ALG14-congenital disorder of glycosylation

rare

Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.

Identifiers
MONDO:0100559
Causal genes
ALG14
Part of
Congenital disorder of glycosylation
Also known as
ALG14-CDG

Subtypes

All diseases Rare only
Disease Subtypes
Congenital myasthenic syndrome 15
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
Myopathy, epilepsy, and progressive cerebral atrophy

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.