The most striking feature was severe hypocalcemia (1.17 mmol/L, normal range 2.20–2.65 mmol/L), hyperphosphatemia (2.64 mmol/L, normal range 0.81–1.45mmol/L), and mild hypomagnesemia (0.60 mmol/L, normal range 0.77–1.03mmol/L), meanwhile, intact PTH was decrease to < 6.30 ng/L (normal range 18.5–88.0 ng/L), and 25 (OH) vitamin D was normal. The gene discussed is PTH; the disease is Hypocalcemia.