PIK3CA and Proteus syndrome: Since then, post‐zygotic pathogenic variants in several genes have been linked to disease: AKT1 (OMIM 164730) and Proteus syndrome, PIK3CA (OMIM 171834) and CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal nevi Scoliosis/skeletal/spinal anomalies), GNAQ (OMIM 600998) and Sturge–Weber syndrome, as well as many related phenotypes (Biesecker & Spinner, 2013; Lindhurst et al., 2011; Riviere et al., 2012).