Herein, we describe a novel <i>de novo</i> missense genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated with CLIFAHDD syndrome.<h4>Case description</h4>This study describes a patient with varus deformities in both feet, deviation of the ulnar side of the fingers, and severe hypotonia. This evidence concerns the gene NALCN and congenital contractures of the limbs and face, hypotonia, and developmental delay.