/MPDU1-congenital disorder of glycosylation

MPDU1-congenital disorder of glycosylation

Rare Disease

MONDO:0012211

Also Known As

CDG syndrome type IfCDG-IfCDG1FCDGIfMPDU1-CDGcarbohydrate deficient glycoprotein syndrome type Ifcongenital disorder of glycosylation type 1fcongenital disorder of glycosylation type IfCDG 1FCDG IfMPDU1-CDG (CDG-If)carbohydrate-deficient glycoprotein syndrome type 1Fcongenital disorder of glycosylation, type If

Definition

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.