Variants in MED12 have been associated with ID syndromes with congenital abnormalities, including Opitz-Kaveggia syndrome (MIM 305,450) (Risheg et al. 2007), Lujan-Fryns syndrome (MIM 309,520) (Schwartz et al. 2007) and X-linked Ohdo syndrome (MIM 300,896) (Vulto-van Silfhout et al. 2013). The gene discussed is MED12; the disease is Blepharophimosis-intellectual disability syndrome, MKB type.