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ALG2-CDG (CDG-Ii)

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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

The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1).

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission is autosomal recessive.

NIH genetic and rare disease info

ALG2-CDG (CDG-Ii) is a rare disease.


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