Disruption of GnRH neuronal migration and/or defective GnRH synthesis and secretion leads to congenital hypogonadotropic hypogonadisms (CHH), a rare endocrine disorder (prevalence: 1 in 4000) characterized by absent or incomplete puberty resulting in infertility (Boehm et al., 2015). Here, GNRH1 is linked to cartilage-hair hypoplasia.