nephronophthisis 16

A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.

Signs and symptoms

• Renal insufficiency
• Polycystic kidney dysplasia
• Stage 5 chronic kidney disease
• Aortic valve stenosis
• Enlarged kidney
• Nephronophthisis
• Cholestasis
• Situs inversus totalis
• Hypertrophic cardiomyopathy
• Periportal fibrosis

Also known as: NPHP16