DDOST-congenital disorder of glycosylation
DDOST-congenital disorder of glycosylation
Definition
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
Also known as carbohydrate deficient glycoprotein syndrome type Ir, CDG syndrome type Ir, CDG-Ir, CDG1R, congenital disorder of glycosylation type 1r, congenital disorder of glycosylation type Ir, DDOST-CDG, DDOST-congenital disorder of glycosylation — per MONDO