An uncertain significance of heterozygous variant for DLX6 (Distal-less homeobox) [99_119del (p.Gln38_Gln44del)] which is responsible for autosomal dominant split-hand/foot malformation type 1 [30] and GJA1 [c.196 T > C (p.Tyr66His)] gene involved in autosomal dominant and recessive oculodentodigital dysplasia was identified (9). Here, GJA1 is linked to oculodentodigital dysplasia.