So far, 100 % of the ODDD patients harbor mutations in one of the GJA1 gene alleles that encode Cx43 [61] but there are now autosomal mutations linked to Cx43 that do not cause ODDD but rather cranio-metaphyseal dysplasia (R239Q) [68] and sudden infant death (SID) (E42K, S272P) [69]. This evidence concerns the gene GJA1 and oculodentodigital dysplasia.