STT3A-congenital disorder of glycosylation
STT3A-congenital disorder of glycosylation
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).
Also known as CDG syndrome type Iw, CDG-Iw, CDG1W, congenital disorder of glycosylation type 1w, congenital disorder of glycosylation type Iw, congenital disorder of glycosylation, type Iw, autosomal recessive, STT3A-CDG, STT3A-congenital disorder of glycosylation — per MONDO