Subjects are without features of ODDD caused by over 70 other GJA1 mutations, and the A44V (Boyden et al., 2015), E227D (Boyden et al., 2015), P283L, and T290N mutations were observed in five unrelated EKVP subjects (see Table 1), suggesting that EKVP pathology may be restricted to a small number of GJA1 mutation sites. Here, GJA1 is linked to oculodentodigital dysplasia.