ALG2-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation
Definition
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.
Also known as ALG2-CDG, ALG2-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ii, CDG 1I, CDG Ii, CDG syndrome type Ii, CDG1I, congenital disorder of glycosylation type 1i, congenital disorder of glycosylation type Ii, congenital disorder of glycosylation, type Ii, mannosyltransferase 2 deficiency — per MONDO