Catalog

Phosphomannose isomerase deficiency

No MMS code

Link to WHO Definition

Phosphomannose isomerase deficiency – http://id.who.int/icd/entity/803079134

CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis).