The first is a missense variant in MED12 which in OMIM has disease assertions with four X-linked syndromic intellectual disability syndromes: Hardikar syndrome (MIM# 301068), Lujan–Fryns syndrome (MIM# 309520), Ohdo syndrome (MIM# 300895), and Opitz–Kaveggia syndrome (MIM# 305450). This evidence concerns the gene MED12 and cholestasis-pigmentary retinopathy-cleft palate syndrome.