An overlap of CMTX5 and Arts syndrome has been reported with the pathogenic variant c.830A>C, p.(Gln277Pro), and also X‐linked hearing loss and neuropathy with pathogenic variants c.337G>T, p.(Ala113Ser) and c.925G>T p.(Val309Phe) (Robusto, 2015; Synofzik, 2014). This evidence concerns the gene PRPS1 and Lethal ataxia with deafness and optic atrophy.