Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.120 Biomarker disease BEFREE We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. 18523453 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.120 Biomarker disease BEFREE Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.120 CausalMutation disease CLINVAR