vitamin D-dependent rickets type 1B

info · Genetic

A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.

Signs and symptoms

Elevated circulating alkaline phosphatase concentration
Decreased circulating calcifediol concentration
Hypocalcemia
Hypophosphatemia
Delayed epiphyseal ossification
Tibial bowing
Difficulty standing
Bulging epiphyses
Femoral bowing
Hypotonia