infantile hypercalcemia 2

A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35.

Signs and symptoms

• Nephrocalcinosis
• Hypercalciuria
• Polyuria
• Failure to thrive
• Medullary nephrocalcinosis
• Renal phosphate wasting
• Hypercalcemia
• Hypophosphatemia
• Hypotonia