Conditions / Urinary
nephronophthisis 18
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.
Signs and symptoms
- Stage 5 chronic kidney disease
- Tubulointerstitial nephritis
- Nephronophthisis
- Renal tubular atrophy
- Thickened glomerular basement membrane
- Cholestasis
- Hypertension
- Intellectual disability
- Strabismus
- Retinitis
Also known as: NPHP18