hypophosphatemic rickets, autosomal recessive type 1

Pathology

• rickets
• osteomalacia

Genetics

• autosomal recessive
• associated with defects in DMP1

Laboratory

• elevated serum FGF23
• serum phosphate: hypophosphatemia

More general terms

• hypophosphatemic rickets, autosomal recessive

Database

• OMIM: https://mirror.omim.org/entry/241520