Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

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A rare genetic endocrine disease characterized by severe hypocalcemia seizures hyperphosphatemia and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay delayed dentition and cataracts.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026

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Familial isolated hypoparathyroidism due to agenesis of parathyroid gland?

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