Due to the important role of MED12 in the regulation of several developmental and signaling pathways, somatic variants in MED12 are known to be involved in cancer and germline variants cause a spectrum of developmental disorders that involve Hardikar syndrome to relatively unspecific non-syndromic intellectual disability (ID) [8,14,15,16]. Here, MED12 is linked to cholestasis-pigmentary retinopathy-cleft palate syndrome.