Conditions / Urinary
nephronophthisis 9
info · Urinary
A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
Signs and symptoms
- Stage 5 chronic kidney disease
- Polydipsia
- Anemia
- Nephronophthisis
- Postnatal growth retardation
- Polyuria
- Renal cortical microcysts
- Retinal degeneration
Also known as: NPHP9