Conditions / Genetic
X-linked recessive hypophosphatemic rickets
info · Genetic
A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.
Signs and symptoms
- Nephrocalcinosis
- Delayed epiphyseal ossification
- Tibial bowing
- Bulging epiphyses
- Femoral bowing
- Short stature
- Renal insufficiency
- Fibular bowing
- Chronic kidney disease
- Bowing of the legs