/STT3A-congenital disorder of glycosylation

STT3A-congenital disorder of glycosylation

Rare Disease

MONDO:0014270

Also Known As

CDG syndrome type IwCDG-IwCDG1WSTT3A-CDGSTT3A-congenital disorder of glycosylationcongenital disorder of glycosylation type 1wcongenital disorder of glycosylation type Iwcongenital disorder of glycosylation, type Iw, autosomal recessiveCDG Iwcongenital disorder of glycosylation, type Iw

Definition

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).