Germline MED12 mutations were originally found in patients with FG and Lujan syndromes (Risheg et al., 2007; Schwartz et al., 2007) and later in patients with X‐linked Ohdo syndrome and isolated XLID disorders (Bouazzi, Lesca, Trujillo, Alwasiyah, & Munnich, 2015; Callier et al., 2013; Isidor et al., 2013; Langley et al., 2015; Lesca et al., 2013; Tzschach et al., 2015; Vulto‐van Silfhout et al., 2013; Yamamoto & Shimojima, 2015). This evidence concerns the gene MED12 and X-linked intellectual disability with marfanoid habitus.