SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 GeneticVariation phenotype BEFREE We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. 25114083 2015