/DPM3-congenital disorder of glycosylation

DPM3-congenital disorder of glycosylation

Rare Disease

MONDO:0013049

Also Known As

CDG syndrome type IoCDG-IoCDG1ODPM3-CDGDPM3-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Iocongenital disorder of glycosylation type 1ocongenital disorder of glycosylation type Iomuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15CDG IoCDGIoCdg1(Dpm3)DG1ODPM3-CDG (CDG-Io)congenital disorder of glycosylation, type Io

Definition

DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.