Human (46 sources):
Abnormal sensory nerve conduction velocity,
Abnormal spinal cord morphology,
Abnormality of peripheral nerves,
Achalasia,
Areflexia,
Ataxia,
Axonal degeneration,
Blindness,
Bone spicule pigmentation of the retina,
Bowel incontinence,
Broad-based gait,
Camptodactyly,
Cataract,
Chronic pain,
Decreased sensory nerve conduction velocity,
Delayed ability to walk,
Delayed gross motor development,
Distal muscle weakness,
Flexion contracture of finger,
Gait ataxia,
Gait disturbance,
Gastrointestinal dysmotility,
Generalized hypotonia,
Impaired proprioception,
Impaired vibration sensation in the lower limbs,
Intellectual disability,
Joint contracture of the hand,
Kyphosis,
Muscle spasm,
Nyctalopia,
Optic atrophy,
Osteomyelitis,
Pigmentary retinopathy,
Positive Romberg sign,
Recurrent urinary tract infections,
Ring scotoma,
Rod-cone dystrophy,
Scoliosis,
Scotoma,
Seizure,
Sensory ataxia,
Skeletal muscle atrophy,
Truncal titubation,
Undetectable electroretinogram,
Urinary incontinence,
Visual loss
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