ORPHA:86309

DPAGT1-CDG

Also called CDG syndrome type Ij, CDG-Ij, CDG1J, Carbohydrate deficient glycoprotein syndrome type Ij, Congenital disorder of glycosylation type 1j, Congenital disorder of glycosylation type Ij, Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Childhood, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:86309 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.