Conditions / Syndrome
Senior-Loken syndrome 6
info · Syndrome
A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21.
Signs and symptoms
- Stage 5 chronic kidney disease
- Reduced visual acuity
- Visual impairment
- Rod-cone dystrophy
- Aplasia/Hypoplasia of the cerebellar vermis