OnlineIMD
UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma deficiency
Synonym(s)
Mucolipidosis type 3 gamma
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
GNPTG
/ N-acetylglucosamine-1-phosphate transferase subunit gamma
16p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
N-acetylglucosamine-1-phosphate transferase subunit gamma
Parent entry
Mucolipidosis type 3