ALG2-congenital disorder of glycosylation

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, CDG 1I, CDG Ii, CDG syndrome type Ii, CDG1I, carbohydrate deficient glycoprotein syndrome type Ii, congenital disorder of glycosylation type 1i

0 clinical trials for this condition and its sub-types, 0 tagged with ALG2-congenital disorder of glycosylation itself.