Panosyan FB, et al. – This cross–sectional analysis aims to extend the phenotypic description of Charcot–Marie–Tooth disease (CMTX1) and to draw new genotype–phenotype relationships. The authors reveal that sex–specific distinctions and clinically relevant attributes need to be incorporated into the measurements for clinical trials in people with CMTX1 in the absence of a phenotypic correlation with specific GJB1 mutations.