Mutations in this DUB and the E3 Ub ligase RNF216 have been linked to syndromic hypogonadotropic hypogonadism, ataxia, and dementia in humans. Knockdown in zebrafish causes anomalous development of the eye, optic tectum, and cerebellum. The gene discussed is RNF216; the disease is hypogonadotropic hypogonadism.