Conditions / Urinary
nephronophthisis 20
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.
Signs and symptoms
- Renal insufficiency
- Nephronophthisis
- Stage 5 chronic kidney disease
- Renal cyst
- Scoliosis
- Vesicoureteral reflux
Also known as: NPHP20