Conditions / Urinary
nephronophthisis 15
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.
Signs and symptoms
- Nephronophthisis
- Retinal degeneration
- Blindness
- Cerebellar vermis hypoplasia
- Nystagmus
- Seizure
- Global developmental delay
- Polydactyly
- Elevated circulating hepatic transaminase concentration
- Obesity
Also known as: NPHP15