In summary, our 16-year-old Chinese patient with hepatalgia, jaundice, hyperpigmentation, and splenomegaly was shown to be a heterozygous H63D and homozygous IVS 2 + 4 T → C HFE and heterozygous G71R UGT1A1 gene mutation patient with simultaneous HHC and GS manifestations. Here, UGT1A1 is linked to Gerstmann syndrome.