DDOST-congenital disorder of glycosylation

MONDO:0013789

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: CDG syndrome type Ir, CDG-Ir, CDG1R, DDOST-CDG, DDOST-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ir, congenital disorder of glycosylation type 1r, congenital disorder of glycosylation type Ir

0 clinical trials for this condition and its sub-types, 0 tagged with DDOST-congenital disorder of glycosylation itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Congenital disorder of glycosylation type I (7) ↑ Disorder of protein N-glycosylation (7)

Including sub-types (0) Tagged with DDOST-congenital disorder of glycosylation (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.