Both Gpr56, a gene whose promoter is bound by SOX2, and Arid1a (Figure 3) are connected to distant SOX2-bound epigenetic enhancers; mutation of the GPR56 promoter causes structural neocortical abnormalities and ARID1A mutation is responsible for intellectual disability (Bae et al., 2014, Lee and Young, 2013, and references therein). The gene discussed is ADGRG1; the disease is Intellectual disability.