obsolete_PMM2-CDG true Replaced with Mondo term. Congenital disorder of glycosylation type Ia http://purl.obolibrary.org/obo/MONDO_0008907 Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized 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. OMIM:212065 3.41.0 CDG1A Phosphomannomutase 2 deficiency ICD10:E77.8 Carbohydrate deficient glycoprotein syndrome type Ia CDG syndrome type Ia Congenital disorder of glycosylation type 1a orphanet CDG-Ia