ORPHA:79319

MPI-CDG

Also called CDG syndrome type Ib, CDG-Ib, CDG1B, Carbohydrate deficient glycoprotein syndrome type Ib, Congenital disorder of glycosylation type 1b, Congenital disorder of glycosylation type Ib, Phosphomannose isomerase 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:79319 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.