In the study population, 76 (50%) patients had normal phosphate levels, 38 (25%) had hypophosphatemia, and 38 (25%) had hyperphosphatemia. 145 (96%) had bone-specific alkaline phosphatase (BSAP) levels ≥ 27 IU/L, while six (4%) had values < 27 IU/L. Here, PAX5 is linked to hyperphosphatemia.