hypophosphatemic rickets, autosomal dominant

Genetics

• associated with defects in FGF23

Clinical manifestations

• rickets
• osteomalacia
• leg deformities
• short stature
• bone pain
• dental abscesses

Laboratory

• low serum phosphorus concentrations

More general terms

• hereditary rickets

Database

• OMIM: https://mirror.omim.org/entry/193100