Babinski sign, Blindness, Cataract, Central scotoma, Cerebellar atrophy, Cerulean cataract, Chorea, Choreoathetosis, Cognitive impairment, Deviation of the 2nd finger, Dysarthria, Dyslexia, Extrapyramidal muscular rigidity, Gait disturbance, Hearing impairment, Hyperreflexia, Intellectual disability, Limited elbow extension, Limited wrist movement, Muscle spasm, Nystagmus, Optic atrophy, Optic disc pallor, Pain, Paresthesia, Pes cavus, Positive Romberg sign, Posterior cortical cataract, Posterior subcapsular cataract, Postural tremor, Red-green dyschromatopsia, Reduced tendon reflexes, Reduced visual acuity, Resting tremor, Scotoma, Somatic sensory dysfunction, Spastic paraparesis, Spasticity, Tremor, Tritanomaly, Unsteady gait, Visual impairment

abnormal white adipose tissue morphology, cardiac interstitial fibrosis, decreased birth body size, decreased body length, decreased body surface temperature, decreased circulating insulin-like growth factor I level, decreased fat cell size, decreased liver glycogen level, decreased locomotor activity, decreased retina ganglion cell number, decreased white adipose tissue amount, dilated heart left ventricle, hunched posture, increased brown adipose tissue amount, increased liver triglyceride level, increased liver weight, macrovesicular hepatic steatosis, premature death, preweaning lethality, incomplete penetrance, thin interventricular septum, thin retina ganglion layer, thin retina inner plexiform layer, thin retina outer nuclear layer