OnlineIMD
CSGALNACT1-CDG
Type
Disease
External link(s)
IEMbase
Gene
CSGALNACT1
/ Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1
8p21.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Chondroitin sulfate N-acetylgalactosaminyltransferase 1
Disease group(s)
18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation