STT3A-congenital disorder of glycosylation

MONDO:0014270

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, STT3A-CDG, STT3A-congenital disorder of glycosylation, congenital disorder of glycosylation type 1w, congenital disorder of glycosylation type Iw, congenital disorder of glycosylation, type Iw, autosomal recessive

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