Conditions / Genetic
autosomal dominant hypophosphatemic rickets
info ยท Genetic
A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
Signs and symptoms
- Abnormality of the dentition
- Bone pain
- Generalized muscle weakness
- Short stature
- Elevated circulating alkaline phosphatase concentration
- Rickets
- Abnormality of the lower limb
- Renal phosphate wasting
- Osteomalacia
- Hypophosphatemic rickets