However, these patients showed borderline intelligence, which is not typical for EVC and probably depends on C4orf6 or STK32B. To our knowledge, the present deletion is a novel contiguous deletion that is limited to EVC and EVC2. EVC and EVC2 form a head-to-head configuration on 4p16.2. The gene discussed is EVC2; the disease is Ellis-van Creveld syndrome.