EVC2 and ectodermal dysplasia syndrome: In family #46, the proband (II-1) exhibited hypohidrotic ectodermal dysplasia but the father (I-1) presented only mild tooth agenesis; and we identified in the proband only, a private heterozygous mutation targeting EVC2 (c.T2627C, p.L876P, leucine-to-proline) (Fig. 1G, H; Fig. S2B), which encodes a positive modulator of the Hedgehog signaling.