Decerebrate rigidity, Decreased nerve conduction velocity, Developmental regression, Diffuse cerebral atrophy, EEG abnormality, EMG abnormality, Failure to thrive, Feeding difficulties, Fever, Gait disturbance, Generalized myoclonic seizure, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hydrocephalus, Hyperactive deep tendon reflexes, Hypotonia, Increased CSF protein, Irritability, Motor deterioration, Neurodegeneration, Nystagmus, Optic atrophy, Peripheral demyelination, Peripheral neuropathy, Progressive spasticity, Recurrent fever, Recurrent respiratory infections, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Spasticity, Visual impairment, Vomiting, Weight loss

abnormal kidney morphology, abnormal lipid level, abnormal long bone metaphysis morphology, abnormal medulla oblongata morphology, abnormal microglial cell morphology, abnormal myelin sheath morphology, abnormal osteoclast physiology, abnormal pons morphology, abnormal protein level, abnormal sciatic nerve morphology, abnormal skeleton development, abnormal sphingomyelin level, abnormal spinal cord white matter morphology, abnormal tumor necrosis factor level, axonal spheroids, decreased body size, decreased bone trabecula number, decreased circulating insulin-like growth factor I level, decreased femur size, decreased femur weight, decreased oligodendrocyte number, hindlimb paralysis, impaired limb coordination, impaired righting response, increased mean systemic arterial blood pressure, increased oligodendrocyte progenitor number, increased systemic arterial diastolic blood pressure, paresis, peripheral nervous system degeneration, postnatal lethality, incomplete penetrance, premature death, renal/urinary system phenotype, slow postnatal weight gain, vision/eye phenotype, weakness