Hypophosphatemic rickets
Recommended panel testing at Breda Genetics for this condition: Hypophosphatemic rickets (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3) Clinical and genetic variability Hypophosphatemic rickets is a clinically and genetically heterogenous disorder. Autosomal dominant, receissive and X-linked forms are known. X-linked forms There are two forms of X-linked hypophosphatemic rickets: X-linked dominant (PHEX gene mutations) and X-linked