Other Names: CDG 1I; CDG1I; Carbohydrate-deficient glycoprotein syndrome type 1I; ALG2-CDG (CDG-Ii); Congenital disorder of glycosylation, type Ii ; CDG syndrome type Ii; CDG-Ii; Carbohydrate deficient glycoprotein syndrome type Ii; Mannosyltransferase 2 deficiency; Congenital disorder of glycosylation type 1i; ALG2-CDG; Congenital disorder of glycosylation type Ii
The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1).
Transmission is autosomal recessive.
NIH genetic and rare disease info
ALG2-CDG (CDG-Ii) is a rare disease.