Germline mutations in the MED12 gene have been associated with Opitz–Kaveggia syndrome, also known as FG syndrome 1 (OMIM#305450) [64], Lujan–Fryns syndrome (OMIM#309520) [65], which overlaps with FG syndrome 1, and X-linked Ohdo syndrome (OMIM#300895) [66]. This evidence concerns the gene MED12 and Blepharophimosis-intellectual disability syndrome, MKB type.