Reported clinical manifestations include: cholestasis (13/13, 100%), persistently elevated AFP (11/11, 100%), coagulopathy (11/11, 100%), hypoglycemia (9/13, 69%), splenomegaly (7/13, 54%), hyperammonemia (7/13, 54%), failure to thrive (8/13, 62%), and hepatomegaly (6/13, 46%). The gene discussed is AFP; the disease is cholestasis.