Here, we describe a patient with ichthyosis, pulmonic stenosis, renal dysplasia, hypospadias, growth failure, thrombocytopenia, anemia, bone marrow fibrosis, and chronic diarrhea found by research‐based exome sequencing to harbor a novel, maternally inherited Val256Leu MBTPS2 variant. Here, MBTPS2 is linked to Thrombocytopenia.