Lina Basel-Vanagaite et al. demonstrate, using WES, that a MED25 homozygous mutation (Tyr39Cys) in MED25 causes a previously unidentified syndrome marked by profound intellectual disability, distinctive dysmorphic traits, congenital eye defects, abnormalities of the corpus callosum and other congenital issues: they assessed seven individuals from four unrelated families living in the same village with WES, clinic valuation and MRI [80]. This evidence concerns the gene MED25 and Intellectual disability.