Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Demyelinating peripheral neuropathy, Diaphragmatic weakness, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Gait imbalance, Generalized hypotonia, Hammertoe, Hearing impairment, Hyperactive deep tendon reflexes, Hypertrophic nerve changes, Hyporeflexia, Hypotonia, Increased CSF protein, Kyphoscoliosis, Limb muscle weakness, Motor delay, Muscle weakness, Myelin outfoldings, Nystagmus, Onion bulb formation, Paresthesia, Peripheral neuropathy, Pes cavus, Respiratory insufficiency, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Shoulder pain, Skeletal muscle atrophy, Split hand, Spontaneous pain sensation, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Vocal cord paralysis

convulsive seizures, deafness, decreased body size, decreased grip strength, decreased locomotor activity, decreased myelin sheath thickness, decreased survivor rate, forelimb paralysis, hindlimb paralysis, impaired righting response, increased Schwann cell number, increased Schwann cell proliferation, increased circulating alkaline phosphatase level, increased or absent threshold for auditory brainstem response, lethality at weaning, complete penetrance, limb grasping, limbs/digits/tail phenotype, muscle degeneration, postnatal lethality, premature death, reduced female fertility, reduced male fertility, vision/eye phenotype, weakness