Conditions / Syndrome
Meckel syndrome 7
info · Syndrome
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.
Signs and symptoms
- Multicystic kidney dysplasia
- Bile duct proliferation
- Oligohydramnios
- Stage 5 chronic kidney disease
- Patent ductus arteriosus
- Biliary cirrhosis
- Large fontanelles
- Dandy-Walker malformation
- Pancreatic cysts
- Aortic valve stenosis
Also known as: MKS7; Meckel-Gruber syndrome, type 7