OnlineIMD
PMM2-CDG
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PMM2
/ Phosphomannomutase 2
16p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphomannomutase 2
Disease group(s)
18.1 Disorders of N-linked protein glycosylation