| {"0": "Episodic vomiting", "1": "Morphological abnormality of the corticospinal tract", "2": "Progressive hearing impairment", "3": "Peripheral demyelination", "4": "Progressive sensorineural hearing impairment", "5": "Thin ribs", "6": "Bulbar signs", "7": "Central scotoma", "8": "Morphological abnormality of the pyramidal tract", "9": "Scotoma", "10": "Hypothermia", "11": "Proximal muscle weakness in upper limbs", "12": "3 methylglutaconic aciduria", "13": "Retinal dysplasia", "14": "Decreased number of peripheral myelinated nerve fibers", "15": "Submucous cleft of soft and hard palate", "16": "Abnormal corneal epithelium morphology", "17": "Underdeveloped supraorbital ridges", "18": "Ragged red muscle fibers", "19": "Coxa vara", "20": "Dysdiadochokinesis", "21": "Bradycardia", "22": "Postural tremor", "23": "Horizontal nystagmus", "24": "Aplasia hypoplasia involving the skeletal musculature", "25": "Abnormal csf protein level", "26": "Neck muscle weakness", "27": "Slow decrease in visual acuity", "28": "Positive romberg sign", "29": "Abnormality of the phalanges of the toes", "30": "Abnormal delivery", "31": "Nasogastric tube feeding in infancy", "32": "Slender build", "33": "Acute coronary syndrome", "34": "Shoulder girdle muscle weakness", "35": "Abnormal peripheral myelination", "36": "Wormian bones", "37": "Head tremor", "38": "Retinal vascular tortuosity", "39": "Toe walking", "40": "Upper limb muscle weakness", "41": "Sensory axonal neuropathy", "42": "Facial diplegia", "43": "Abnormality of coordination", "44": "Hypoparathyroidism", "45": "Distal lower limb amyotrophy", "46": "Impaired vibratory sensation", "47": "Left ventricular systolic dysfunction", "48": "Tissue ischemia", "49": "Serositis"} |