CTDP1 and neuropathy: CTDP1 is the only gene in which pathogenic variants are known to cause congenital cataracts, facial dysmorphism, and neuropathy characterized by abnormalities of the eye (Kalaydjieva & Chamova, 1993). SGCD is associated with recessive limb‐girdle muscular weakness and Pompeii disease (Bevilacqua et al., 2020).