The first SHQ1 variants were identified in a patient that suffered from intrauterine growth retardation and a neurological disorder comprising cerebellar degeneration, which were evocative of the Hoyeraal-Hreidarsson syndrome, a severe form of dyskeratosis congenita (DC); however, it had not been possible to verify if the patient had short telomeres, a hallmark of DC (Bizarro and Meier, 2017). Here, SHQ1 is linked to Hoyeraal-Hreidarsson syndrome.