The pancreatic and neurological phenotypes observed in Cnot1p.(Arg535Cys)/p.(Arg535Cys) E14.5 mouse embryos are consistent with the pancreatic agenesis and holoprosencephaly observed in the three case subjects, confirming that the de novo CNOT1 mutation is indeed the cause of their disease. The gene discussed is CNOT1; the disease is holoprosencephaly.