They revealed hypocalcemia (1.85 mmol·L−1, reference range 2.13–2.70 mmol·L−1), hypophosphatemia (0.80 mmol·L−1, reference range 1.29–1.94 mmol·L−1), elevated serum intact parathyroid hormone (545.6 pg·mL−1, reference range 12.0–65.0 pg·mL−1), ALP (540 U·L−1, reference range 58–400 U·L−1), 1,25(OH)2D (358.4 pg·mL−1, reference range 19.6–54.3 pg·mL−1) and normal levels of 25(OH)D (12.1 ng·mL−1, reference range 8.0–50.0 ng·mL−1). The gene discussed is PTH; the disease is hypophosphatemia.