SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Expressive language delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.010 GeneticVariation phenotype BEFREE In correlation with the exclusive deletion of SETBP1, this study delimits a milder phenotype distinct from SGS overlapping with the previously described phenotype of del(18)(q12.2q21.1) syndrome including global developmental, expressive language delay and distinctive facial features. 21037274 2011