The patients with GBA2 mutations have progressive diseases that can present from early childhood to early adulthood and have a wide range of neurological and non-neurological symptoms, including cataracts, hypotonia, brisk tendon reflexes, gait ataxia, spasticity, and mental impairment, with thinning of the corpus callosum and atrophy of the cerebellum. Here, GBA2 is linked to cataract.