ORPHA:79328

ALG9-CDG

Also called CDG syndrome type IL, CDG-IL, CDG1L, Carbohydrate deficient glycoprotein syndrome type IL, Congenital disorder of glycosylation type 1L, Mannosyltransferase 7-9 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:79328 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.