Conditions / Genetic
Fanconi renotubular syndrome 3
info · Genetic
A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHH
A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.
Signs and symptoms
- Low-molecular-weight proteinuria
- Aminoaciduria
- Short stature
- Glycosuria
- Bowing of the legs
- Rickets
- Hyperphosphaturia
- Growth delay
- Metabolic acidosis
- Renal insufficiency