Cognitive impairment, Corpus callosum atrophy, Delayed menarche, Distal amyotrophy, Dysarthria, Dysphagia, External ophthalmoplegia, Gait disturbance, Gaze-evoked nystagmus, Glaucoma, Global developmental delay, Hand tremor, Head tremor, Hearing impairment, Horizontal nystagmus, Hyperactive deep tendon reflexes, Hyperreflexia, Hypogonadism, Hypoplasia of the pons, Hypothyroidism, Impaired proprioception, Infertility, Iridocyclitis, Limb ataxia, Lower limb spasticity, Memory impairment, Nystagmus, obsolete Difficulty walking, obsolete Hypotrichosis, Oculomotor apraxia, Oligomenorrhea, Ophthalmoplegia, Pancreatitis, Parietal cortical atrophy, Postural instability, Postural tremor, Progeroid facial appearance, Retinal atrophy, Rigidity, Saccadic smooth pursuit, Seizure, Spasticity, Speech apraxia, Tremor, Truncal ataxia, Type I diabetes mellitus, Type II diabetes mellitus, Unsteady gait

impaired spatial learning, increased susceptibility to injury, increased thymocyte apoptosis, increased urine creatinine level, increased urine osmolality, increased urine sodium level, increased urine urea nitrogen level, perinatal lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, premature death, Purkinje cell degeneration, reduced fertility, short stride length, tau protein deposits, thymus atrophy