We performed whole-exome sequencing (WES) for eight patients with Kallmann syndrome or normosmic CHH who carried no mutations in 14 major causative genes for CHH (ANOS1, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, SOX10, TAC3, TACR3, and WDR11). This evidence concerns the gene FGF8 and cartilage-hair hypoplasia.