has material basis in germline mutation in MED12 X-linked syndromic intellectual disability MED12-related intellectual disability syndrome 2018-03-09T01:45:27Z https://github.com/monarch-initiative/mondo/issues/5588 GARD:0026013 MONDO:0100000 MED12 X-linked syndromic intellectual disability MED12-related intellectual disability syndrome X-linked syndromic intellectual disability caused by mutation in MED12 An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.