Conditions / Syndrome
arthrogryposis, renal dysfunction, and cholestasis 2
info · Syndrome
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
Signs and symptoms
- Aminoaciduria
- Hepatomegaly
- Glycosuria
- Metabolic acidosis
- Cholestatic liver disease
- Proteinuria
- Arthrogryposis multiplex congenita
- Pruritus
- Nephrocalcinosis
- Sloping forehead
Also known as: ARCS2