ORPHA:79325

ALG8-CDG

Also called CDG syndrome type Ih, CDG-Ih, CDG1H, Carbohydrate deficient glycoprotein syndrome type Ih, Congenital disorder of glycosylation type 1h, Congenital disorder of glycosylation type Ih, Glucosyltransferase 2 deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79325 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.