PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Executive dysfunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		0.010 GeneticVariation disease BEFREE We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. 22531416 2012