Other genes in the deleted region have shown associations with other diseases not currently seen in our patient, including HIPK2 with leukemia, ATP6V0A4 with renal tubular acidosis, TRIM24 with papillary thyroid carcinoma, PRSS1 with pancreatitis, and GPDS1 with glaucoma and optic nerve degeneration. Here, HIPK2 is linked to renal tubular acidosis.