Conditions / Syndrome
Senior-Loken syndrome 9
info · Syndrome
A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37.
Signs and symptoms
- Stage 5 chronic kidney disease
- Tubulointerstitial nephritis
- Nephronophthisis
- Rod-cone dystrophy
- Obesity
- Retinal dystrophy
- Global developmental delay
- Hepatic fibrosis
- Polydactyly
- Nystagmus