ALG2-CDG

From BugSigDB


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.
Aliases
  • ALG2-CDG
  • ALG2-CDG (CDG-II)
  • Carbohydrate deficient glycoprotein syndrome type Ii
  • carbohydrate deficient glycoprotein syndrome type II
  • carbohydrate-deficient glycoprotein syndrome type 1I
  • CDG 1I
  • CDG II
  • CDG syndrome type II
  • CDG syndrome type Ii
  • CDG-II
  • CDG-Ii
  • CDG1I
  • Congenital disorder of glycosylation type 1i
  • congenital disorder of glycosylation type 1i
  • Congenital disorder of glycosylation type Ii
  • congenital disorder of glycosylation type II
  • congenital disorder of glycosylation, type II
  • Mannosyltransferase 2 deficiency
  • mannosyltransferase 2 deficiency