PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Language Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.120 GeneticVariation group BEFREE We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions. 19276543 2009
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.120 GeneticVariation group BEFREE A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. 18727676 2008
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.120 Biomarker group HPO