Autosomal recessive infantile hypercalcemia

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Autosomal recessive infantile hypercalcemia

Synonyms: Familial infantile hypercalcemia with suppressed intact parathyroid hormone

A rare genetic phosphocalcic metabolism disorder characterized by early-onset hypercalcemia hypophosphatemia hypercalciuria decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis typically manifesting with failure to thrive hypotonia vomiting constipation and/or polyuria.

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 February 2024

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Clinical Trials

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