In this report, we describe the clinical presentation of an Italian patient diagnosed with a mild form of CLIFAHDD, in whom Whole Exome Sequencing (WES) identified a novel de novo missense variant c.1514A>T; p.(Lys505Met) in the NALCN gene. The gene discussed is NALCN; the disease is congenital contractures of the limbs and face, hypotonia, and developmental delay.