Catalog

Phosphomannomutase 2 deficiency

No MMS code

Link to WHO Definition

Phosphomannomutase 2 deficiency – http://id.who.int/icd/entity/491821390

Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome and is characterised by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood.