What is ALG2-CDG?

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.

Other condition names

  • CDG syndrome type Ii
  • CDG-Ii
  • CDG1I
  • Carbohydrate deficient glycoprotein syndrome type Ii
  • Congenital disorder of glycosylation type 1i
  • Congenital disorder of glycosylation type Ii
  • Mannosyltransferase 2 deficiency

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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