ORPHA:79329

MGAT2-CDG

Also called CDG syndrome type IIa, CDG-IIa, CDG2A, Carbohydrate deficient glycoprotein syndrome type IIa, Congenital disorder of glycosylation type 2a, Congenital disorder of glycosylation type IIa, N-acetylglucosaminyltransferase 2 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:79329 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.