OnlineIMD
GNPNAT1-CDG
Type
Disease
External link(s)
IEMbase
Gene
GNPNAT1
/ Glucosamine 6-Phosphate N-Acetyltransferase 1
14q22.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glucosamine 6-phosphate N-acetyltransferase 1
Disease group(s)
18.4.5 Other disorders of multiple glycosylation pathways