ALG2-CDG (CDG-Ii)
Other Names: CDG 1I; CDG1I; Carbohydrate-deficient glycoprotein syndrome type 1I; ALG2-CDG (CDG-Ii); Congenital disorder of glycosylation, type Ii ; CDG syndrome type Ii; CDG-Ii; Carbohydrate deficient glycoprotein syndrome type Ii; Mannosyltransferase 2 deficiency; Congenital disorder of glycosylation type 1i; ALG2-CDG; Congenital disorder of glycosylation type Ii
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors.
Cause[edit | edit source]
The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1).
Inheritance[edit | edit source]
Transmission is autosomal recessive.
NIH genetic and rare disease info[edit source]
ALG2-CDG (CDG-Ii) is a rare disease.
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