The novel variant c.5464G > A (p. Gly1822Ser) in the CHD7 gene can cause CHARGE syndrome (OMIM: 214800) and Hypogonadotropic hypogonadism 5 with or without anosmia, HH5 (OMIM: 612370). This evidence concerns the gene CHD7 and hypogonadotropic hypogonadism.