ALG2-CDG
From BugSigDB
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
- Aliases
- ALG2-CDG
- ALG2-CDG (CDG-II)
- Carbohydrate deficient glycoprotein syndrome type Ii
- carbohydrate deficient glycoprotein syndrome type II
- carbohydrate-deficient glycoprotein syndrome type 1I
- CDG 1I
- CDG II
- CDG syndrome type II
- CDG syndrome type Ii
- CDG-II
- CDG-Ii
- CDG1I
- Congenital disorder of glycosylation type 1i
- congenital disorder of glycosylation type 1i
- Congenital disorder of glycosylation type Ii
- congenital disorder of glycosylation type II
- congenital disorder of glycosylation, type II
- Mannosyltransferase 2 deficiency
- mannosyltransferase 2 deficiency
