Miller–Dieker syndrome (MDS); INPP5K, KANSL1, WDR81, BHLHA9, WRAP53, DLG4, TRPV3, ACADVL, ASPA, C1QBP, MPDU1, KDM6B, SLC13A5, CTNS, AIPL1, AIPL1, MYH10, CTC1, MYH3, MYH8, and SCO1. The gene discussed is C1QBP; the disease is myelodysplastic syndrome.