Here, we report a patient with BRESHECK syndrome with the novel features of chronic diarrhea, anemia, bone marrow fibrosis, hypertriglyceridemia, hypobetalipoproteinemia, and hypoalphalipoproteinemia found by research‐based exome sequencing to harbor a novel Val256Leu MBTPS2 variant. Here, MBTPS2 is linked to BRESEK syndrome.