Conditions / Genetic
infantile hypercalcemia 1
info · Genetic
A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.
Signs and symptoms
- Medullary nephrocalcinosis
- Decreased circulating parathyroid hormone level
- Hypercalciuria
- Hypercalcemia
- Polyuria
- Hypotonia
- Lethargy
- Nephrocalcinosis
- Vomiting
- Failure to thrive