In addition to these neuroendocrine abnormalities, GHS individuals with mutations predicted to be deleterious for RNF216 also exhibit ataxia and dementia with corresponding cortical and cerebellar atrophy (Margolin et al., 2013; Alqwaifly and Bohlega, 2016; Calandra et al., 2019). The gene discussed is RNF216; the disease is cerebellar ataxia.