This patient was subsequently confirmed to have CLIFAHDD syndrome through genetic testing, which also revealed a novel missense <i>de novo</i> genetic variant in the NALCN gene (c.3553G > A, p.Ala1185Thr).<h4>Conclusions</h4>Our findings further enrich the known variant spectrum of the NALCN gene and may expand the range of clinical options for treating NALCN-related disorders. The gene discussed is NALCN; the disease is congenital contractures of the limbs and face, hypotonia, and developmental delay.