Corpus callosum atrophy, Delayed menarche, Difficulty walking, 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, Neurological speech impairment, Nystagmus, 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, obsolete Hypotrichosis

decreased testis weight, 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, reduced fertility, short stride length, tau protein deposits, thymus atrophy