We molecularly diagnosed mutations in CASR, KMT2D, GNAS, PRKAR1A, and CYP27B1, corresponding to cases with clinical diagnoses of isolated hypoparathyroidism/primary hyperparathyroidism, syndromic hypoparathyroidism, pseudohypoparathyroidism, acrodysostosis, and calcipenic rickets. Here, CYP27B1 is linked to hypoparathyroidism.