PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Severe psychomotor retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.010 GeneticVariation phenotype BEFREE Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) is an autosomal recessive, metabolic disorder with severe psychomotor retardation and a high mortality rate in early childhood. 9781052 1998