rs398122403, SYNJ1

N. diseases: 11
Disease: Cognitive deterioration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cognitive deterioration
CUI: C0854193
Disease: Cognitive deterioration
0.010 GeneticVariation BEFREE Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration. 23804577 2013