/DDOST-congenital disorder of glycosylation

DDOST-congenital disorder of glycosylation

Rare Disease

MONDO:0013789

Also Known As

CDG syndrome type IrCDG-IrCDG1RDDOST-CDGDDOST-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Ircongenital disorder of glycosylation type 1rcongenital disorder of glycosylation type IrDDOST-CDG (CDG-Ir)carbohydrate deficient glycoprotein syndrome typecongenital disorder of glycosylation, type Ir

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).