rs121918364, SRPX2

N. diseases: 5
Disease: Intellectual Disability ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.010 GeneticVariation BEFREE A second mutation (Y72S) was identified within the first sushi domain of SRPX2 in a male with RSs and bilateral perisylvian polymicrogyria and his female relatives with mild MR or unaffected carrier status. 16497722 2006