ALG2-CDG
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
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.