EDA and hypohidrotic ectodermal dysplasia: EDA female carriers also showed the HED phenotype; 6 out of 7 had predicted variants with severe functional consequences, including the disruption of the protein by frameshift mutations [3], partial or total EDA gene deletion [2] or a novel missense mutation affecting an amino acid (c.871G > C/p.Gly291Arg) described as crucial for proper protein folding [25].