nephronophthisis 14

A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.

Signs and symptoms

• Cerebellar vermis hypoplasia
• Nephronophthisis
• Polycystic kidney dysplasia
• Situs inversus totalis
• Retinal degeneration

Also known as: NPHP14