Mutations in MED25 have been associated with Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) (MIM #616449) [84], an uncommon autosomal recessive genetic disorder characterized by profound developmental delays and a spectrum of craniofacial, neurological, ocular, and cardiac abnormalities [85]. Here, MED25 is linked to congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome.