/ALG2-congenital disorder of glycosylation

ALG2-congenital disorder of glycosylation

Rare Disease

MONDO:0011933

Also Known As

ALG2-CDGALG2-congenital disorder of glycosylationCDG 1ICDG IiCDG syndrome type IiCDG1Icarbohydrate deficient glycoprotein syndrome type Iicongenital disorder of glycosylation type 1icongenital disorder of glycosylation type Iicongenital disorder of glycosylation, type Iimannosyltransferase 2 deficiencyALG2-CDG (CDG-II)carbohydrate-deficient glycoprotein syndrome type 1I

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.