Moreover, the proband harboring this variant also harbored a variant in FGFR1 (p.(Arg209Cys)) which is reported as likely pathogenic for hypogonadotropic hypogonadism with or without anosmia in ClinVar (Variation ID: 548670), suggesting that this is a possible alternative explanation for the phenotype in this proband. The gene discussed is FGFR1; the disease is Kallmann syndrome.