Babinski sign, Bilateral sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bowel incontinence, Bulbar palsy, Bulbar signs, CNS demyelination, Central apnea, Cerebral dysmyelination, Cholecystitis, Chorea, Clumsiness, Decerebrate rigidity, Decreased nerve conduction velocity, Delusions, Dementia, Depression, Developmental regression, Difficulty walking, Dysarthria, Dysphagia, Dystonia, EMG: chronic denervation signs, EMG: neuropathic changes, Emotional lability, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Feeding difficulties in infancy, Frequent falls, Gait ataxia, Gait disturbance, Gallbladder dysfunction, Generalized clonic seizure, Generalized hypotonia, Global brain atrophy, Global developmental delay, Hallucinations, Hepatomegaly, Hepatosplenomegaly, Hyperreflexia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Increased CSF protein, Increased cerebral lipofuscin, Intellectual disability, Intention tremor, Leukodystrophy, Loss of speech, Memory impairment, Mental deterioration, Muscle weakness, Myoclonus, Neoplasm of the gallbladder, Neuronal loss in central nervous system, Optic atrophy, Orthostatic hypotension due to autonomic dysfunction, Osteopenia, Peripheral demyelination, Polyneuropathy, Progressive gait ataxia, Progressive peripheral neuropathy, Progressive psychomotor deterioration, Progressive spastic quadriplegia, Punctate periventricular T2 hyperintense foci, Recurrent respiratory infections, Reduced visual acuity, Respiratory insufficiency, Schizophrenia, Seizure, Short attention span, Spastic tetraparesis, Spastic tetraplegia, Spasticity, Splenomegaly, Tetraplegia, Thrombocytopenia, Urinary incontinence, Vegetative state, obsolete Toe walking

abnormal choroid plexus morphology, abnormal cochlea morphology, abnormal cochlear IHC afferent innervation pattern, abnormal cochlear IHC efferent innervation pattern, abnormal cochlear OHC efferent innervation pattern, abnormal cochlear inner hair cell morphology, abnormal cochlear outer hair cell physiology, abnormal corneal stroma morphology, abnormal distal convoluted tubule morphology, abnormal distortion product otoacoustic emission, abnormal dorsal root ganglion morphology, abnormal enzyme/coenzyme level, abnormal epididymis morphology, abnormal food intake, abnormal habituation, abnormal hepatocyte morphology, abnormal hippocampus granule cell layer, abnormal innervation, abnormal intestinal peristalsis, abnormal involuntary movement, abnormal lipid homeostasis, abnormal lipid level, abnormal locomotor behavior, abnormal microglial cell physiology, abnormal motor capabilities/coordination/movement, abnormal muscle fiber morphology, abnormal myelin sheath morphology, abnormal neuron physiology, abnormal organ of Corti morphology, abnormal prostate gland epithelium morphology, abnormal prostate gland morphology, abnormal renal tubule morphology, abnormal seminal vesicle morphology, abnormal telencephalon morphology, abnormal vascular endothelial cell morphology, abnormal ventral spinal root morphology, amyloid beta deposits, axonal spheroids, behavior/neurological phenotype, cochlear outer hair cell degeneration, deafness, decreased Purkinje cell number, decreased anxiety-related response, decreased body size, decreased cerebellar granule cell number, decreased epididymis weight, decreased kidney weight, decreased liver weight, decreased locomotor activity, decreased male germ cell number, decreased prostate gland weight, decreased seminal vesicle weight, decreased spleen weight, decreased testis weight, enhanced autophagy, head shaking, hematopoietic system phenotype, hindlimb paralysis, homeostasis/metabolism phenotype, impaired balance, impaired limb coordination, increased beta-galactosidase level, increased or absent threshold for auditory brainstem response, increased spinal cord size, increased vertical activity, lethality at weaning, complete penetrance, limb grasping, liver/biliary system phenotype, microgliosis, muscular atrophy, neonatal lethality, incomplete penetrance, nervous system inclusion bodies, nervous system phenotype, neuron degeneration, neuronal intranuclear inclusions, no abnormal phenotype detected, premature death, prenatal lethality, incomplete penetrance, reduced long term potentiation, renal/urinary system phenotype, reproductive system phenotype, sensorineural hearing loss, short stride length, slow postnatal weight gain, small cerebellum, small kidney, straub tail, tonic seizures