ALG2-congenital disorder of glycosylation

MONDO:0011933

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

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Sub-types

Congenital myasthenic syndrome 14 (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Congenital disorder of glycosylation (7) Disease of genetic or genomic mechanism (2) Glycoprotein metabolism disease (1) Congenital disorder of glycosylation type I (0) Disease by developmental or physiological process (0)

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