ORPHA:79318

PMM2-CDG

Also called CDG syndrome type Ia, CDG-Ia, CDG1A, Carbohydrate deficient glycoprotein syndrome type Ia, Congenital disorder of glycosylation type 1a, Congenital disorder of glycosylation type Ia, Phosphomannomutase 2 deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

1-9 / 100 000 (Italy)

Rarity class

1-9 / 100 000

ORPHA:79318 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.