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

Rare disease

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