| {"0": "Visual field defect", "1": "Optic disc pallor", "2": "Areflexia of lower limbs", "3": "Scotoma", "4": "Decreased absent ankle reflexes", "5": "Ragged red muscle fibers", "6": "Central scotoma", "7": "Sensory neuropathy", "8": "Nyctalopia", "9": "Weakness of muscles of respiration", "10": "Abnormal left ventricle morphology", "11": "Increased csf lactate", "12": "Ophthalmoparesis", "13": "Slow decrease in visual acuity", "14": "Horizontal nystagmus", "15": "Severe muscular hypotonia", "16": "Areflexia", "17": "Left ventricular hypertrophy", "18": "Axonal degeneration", "19": "Functional motor deficit", "20": "Constriction of peripheral visual field", "21": "Abnormal peripheral nervous system physiology", "22": "Diminished movement", "23": "Bradykinesia", "24": "Postural tremor", "25": "Abnormal csf metabolite level", "26": "Hiatus hernia", "27": "Round face", "28": "Arthralgia", "29": "Abnormal brainstem mri signal intensity", "30": "Pigmentary retinopathy", "31": "Color vision defect", "32": "Thin ribs", "33": "Steppage gait", "34": "Wide anterior fontanel", "35": "Primary adrenal insufficiency", "36": "Decreased number of peripheral myelinated nerve fibers", "37": "Retinal dystrophy", "38": "Tetraplegia tetraparesis", "39": "Prominent superficial blood vessels", "40": "Emotional lability", "41": "Lower limb muscle weakness", "42": "Abnormality of fontanelles", "43": "Polyneuropathy", "44": "Exercise intolerance", "45": "Dysphonia", "46": "Arthrogryposis multiplex congenita", "47": "Abnormal cartilage morphology", "48": "Phenotypic variability", "49": "Sensorimotor neuropathy"} |