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Diseases List


Congenital disorder of glycosylation

Congenital disorder of glycosylation type Ia (CDG-Ia), also known as phosphomannomutase 2 deficiency, is an inherited condition that affects many parts of the body.

Associated Genes

Gene Name Chromosome number
RFT1 3
MPI 15
COG7 16
ALG1 16
PMM2 16
PMM1 22