ORPHA:300536

DDOST-CDG

Also called CDG syndrome type Ir, CDG-Ir, CDG1R, Carbohydrate deficient glycoprotein syndrome type Ir, Congenital disorder of glycosylation type 1r, Congenital disorder of glycosylation type Ir

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:300536 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.