MPDU1-congenital disorder of glycosylation
MPDU1-congenital disorder of glycosylation
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.
Also known as carbohydrate deficient glycoprotein syndrome type If, CDG syndrome type If, CDG-If, CDG1F, CDGIf, congenital disorder of glycosylation type 1f, congenital disorder of glycosylation type If, MPDU1-CDG — per MONDO