Laboratory tests revealed hypocalcemia (1.45 mmol/L [2.20–2.70]), hyperphosphatemia (2.74 mmol/L [0.8–1.6]), elevated serum PTH (671.9 ng/L [15.0–65.0]), decreased 24-hour urinary calcium and phosphorous (0.141 mmol and 0.846 mmol respectively, [2.5–7.5] and [2.10–8.19], respectively). The gene discussed is PTH; the disease is Hypocalcemia.