Conditions / Syndrome
Senior-Loken syndrome 4
info · Syndrome
A Senior-Loken syndrome characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa and that has_material_basis_in homozygous mutation in the NPHP4 gene on chromosome 1p36.
Signs and symptoms
- Stage 5 chronic kidney disease
- Rotary nystagmus
- Polydipsia
- Anemia
- Severely reduced visual acuity
- Amblyopia
- Nephronophthisis
- Polyuria
- Rod-cone dystrophy