A whole-exome and targeted sequencing performed in a patient consanguineous family with a syndrome of cerebellar ataxia, dementia, and hypogonadotropic hypogonadism, showed that the loss-of-function mutations in RNF216 may cause that disease.179 Their in-vivo study further revealed that the knockdown of Rnf216 in zebrafish embryos results in eye, optic tectum, and cerebellum defects. Here, RNF216 is linked to cerebellar ataxia.