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As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a protein network required for extraneuronal gene silencing and also functions as a direct suppressor of Gli3\u2010dependent Sonic hedgehog signaling. This may explain its role in several different X\u2010linked intellectual disability syndromes that share some overlapping clinical features. This review will compare and contrast four different clinical conditions that have been associated with different mutations in <jats:italic>MED12<\/jats:italic>, which is located at Xq13. To date, these conditions include Opitz\u2013Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat\u2013Kievit\u2013Brunner type, or OSMKB), and one large family with profound X\u2010linked intellectual disability due to a novel c.5898insC frameshift mutation that unlike the other three syndromes, resulted in affected female carriers and truncation of the MED12 protein. It is likely that more <jats:italic>MED12<\/jats:italic> mutations will be detected in sporadic patients and X\u2010linked families with intellectual disability and dysmorphic features as exome sequencing becomes more commonly utilized, and this overview of <jats:italic>MED12<\/jats:italic>\u2010related disorders may help to correlate <jats:italic>MED12<\/jats:italic> genotypes with clinical findings. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36183","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T02:40:01Z","timestamp":1381545601000},"page":"2734-2740","source":"Crossref","is-referenced-by-count":77,"title":["<i>MED<\/i><i>12<\/i> related disorders"],"prefix":"10.1002","volume":"161","author":[{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"first","affiliation":[{"name":"Department of Pediatrics Medical Genetics Institute Cedars Sinai Medical Center David Geffen School of Medicine at UCLA Los 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