Compared to previous reports, our study provides several new insights: (1) Identification of five previously unreported PAX2 variants in Chinese children, thereby expanding the global PAX2 mutation spectrum; (2) Description of rare extrarenal phenotypes such as scoliosis, which have not been previously associated with PAX2 mutations; (3) Detailed genotype–phenotype analysis in a relatively large cohort from a single center, highlighting the variable expressivity and incomplete penetrance of PAX2-related disorders in a Chinese pediatric population. This evidence concerns the gene PAX2 and scoliosis.