ORPHA:79330

MOGS-CDG

Also called CDG syndrome type IIb, CDG-IIb, CDG2B, Carbohydrate deficient glycoprotein syndrome type IIb, Congenital disorder of glycosylation type 2b, Congenital disorder of glycosylation type IIb, Glucosidase 1 deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79330 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.