rs121918524, PHF8

N. diseases: 6
Disease: Mental Retardation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
0.010 GeneticVariation BEFREE The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings. 19843542 2010