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- CDG Syndrome (Congenital Disorders of Glycosylation)
- POGLUT1 : protein O-glucosyltransferase 1
- LARGE1 : LARGE xylosyl- and glucuronyltransferase 1
- ALG12 : ALG12 alpha-1,6-mannosyltransferase
- POMT2 : protein O-mannosyltransferase 2
- ALG6 : ALG6 alpha-1,3-glucosyltransferase
- ARFGEF2 : ADP ribosylation factor guanine nucleotide exchange factor 2
- AHCY : adenosylhomocysteinase
- ALG1 : ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
- POMT1 : protein O-mannosyltransferase 1
- B3GLCT : beta 3-glucosyltransferase
- UGT1A1 : UDP glucuronosyltransferase family 1 member A1
- MAT1A : methionine adenosyltransferase 1A
- GALC : galactosylceramidase
- EXT1 : exostosin glycosyltransferase 1
- EXT2 : exostosin glycosyltransferase 2
- APRT : adenine phosphoribosyltransferase
- HPRT1 : hypoxanthine phosphoribosyltransferase 1
- PRPS1 : phosphoribosyl pyrophosphate synthetase 1
- POFUT1 : protein O-fucosyltransferase 1