ORPHA:314667

TMEM165-CDG

Also called Carbohydrate deficient glycoprotein syndrome type IIk, Congenital disorder of glycosylation type 2k, Congenital disorder of glycosylation type IIk, CDG syndrome type IIk, CDG-IIk, CDG2K

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:314667 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.