ORPHA:244310

RFT1-CDG

Also called CDG syndrome type In, CDG-In, CDG1N, Carbohydrate deficient glycoprotein syndrome type In, Congenital disorder of glycosylation type 1n, Congenital disorder of glycosylation type In, Man5GlcNAc2-PP-Dol flippase 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:244310 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.