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.
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG2-CDG
exact
ALG2-CDG (CDG-II)
related
ALG2-congenital disorder of glycosylation
exact
CDG 1I
exact
CDG Ii
exact
CDG syndrome type Ii
exact
CDG1I
exact
carbohydrate deficient glycoprotein syndrome type Ii
exact
carbohydrate-deficient glycoprotein syndrome type 1I
related
congenital disorder of glycosylation type 1i
exact
congenital disorder of glycosylation type Ii
exact
congenital disorder of glycosylation, type Ii
exact
mannosyltransferase 2 deficiency
exact
SPBC11B10.01