The pathogenic variations responsible for ND are found in the NDP gene, 205 variations according to the HGMD v 2022.1 database and 201 variations genetic alterations have been reported in this gene (Wawrzynski et al., 2022), chromosomal rearrangements, frame‐shift variants (Wang et al., 2022), nucleotide insertions (Andarva et al., 2018), splice site variations (Zhou et al., 2021), and mutations in the 5'UTR (Jia & Ma, 2021). This evidence concerns the gene NDP and Norrie disease.