Decreased sensory nerve conduction velocity, EEG abnormality, EMG: chronic denervation signs, Facial asymmetry, Facial diplegia, Flexion contracture, Generalized hypotonia, Global developmental delay, Hemiplegia/hemiparesis, High palate, Hypertelorism, Hypoplasia of the maxilla, Increased CSF protein, Intellectual disability, Limb muscle weakness, Limb tremor, Long face, Low anterior hairline, Macrotia, Microcephaly, Motor delay, Motor polyneuropathy, Myopia, Narrow forehead, Neonatal hypotonia, Nystagmus, Onion bulb formation, Peripheral axonal neuropathy, Polyneuropathy, Psychosis, Ptosis, Respiratory tract infection, Scoliosis, Seizure, Sensory neuropathy, Short nose, Skeletal muscle atrophy, Strabismus, Tapered finger, Tremor, Turricephaly, Ventriculomegaly, Wide nasal bridge, obsolete Restrictive deficit on pulmonary function testing

behavior/neurological phenotype, cochlear ganglion degeneration, cochlear hair cell degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased chemical nociceptive threshold, decreased corpus callosum size, decreased endocochlear potential, decreased exploration in new environment, decreased prepulse inhibition, hippocampal neuron degeneration, impaired limb coordination, increased brain weight, increased coping response, increased susceptibility to pharmacologically induced seizures, limb grasping, limp posture, muscle hypertonia, nervous system phenotype, no abnormal phenotype detected, organ of Corti degeneration, peripheral nervous system degeneration, sensorineural hearing loss, type I spiral ligament fibrocyte degeneration, type III spiral ligament fibrocyte degeneration, weakness