NSHPT is characterised by severe neonatal hypercalcaemia (serum calcium concentrations are typically 3.5–5.0 mmol/L), 5- to 10-fold elevations of serum PTH concentrations, marked parathyroid gland enlargement, failure to thrive, and hyperparathyroid skeletal disease leading to multiple fractures and respiratory distress (Hannan & Thakker 2013, Murphy et al. 2016). The gene discussed is PTH; the disease is Hypercalcemia.