Variants that reduce PRS-I activity are linked to several disorders, including X-linked deafness-1 (DFNX1, MIM 304500), X-linked Charcot–Marie–Tooth neuropathy Type 5 (CMTX5, MIM 311070), and Arts syndrome (MIM 301835) [4]. This evidence concerns the gene PRPS1 and Lethal ataxia with deafness and optic atrophy.