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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Autosomal recessive infantile hypercalcemia?
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