Conditions / Syndrome
arthrogryposis, renal dysfunction, and cholestasis 1
info · Syndrome
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.
Signs and symptoms
- Aminoaciduria
- Renal tubular acidosis
- Jaundice
- Conjugated hyperbilirubinemia
- Arthrogryposis multiplex congenita
- Giant cell hepatitis
- Sloping forehead
- Hypotonia
- Generalized hypotonia
- Hepatic melanin-like lysosomal pigmentation
Also known as: ARCS1