PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE The CDGS III glycoprotein abnormality most probably represents a distinct disorder of glycoprotein metabolism, and needs to be considered in unclear hypsarrhythmia with developmental delay. 10401691 1999
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO