| {"0": "Central scotoma", "1": "Abnormality of glycolipid metabolism", "2": "Progressive psychomotor deterioration", "3": "Cherry red spot of the macula", "4": "Urinary glycosaminoglycan excretion", "5": "Respiratory arrest", "6": "Diffuse white matter abnormalities", "7": "Scotoma", "8": "Bulbar signs", "9": "Osteoarthritis", "10": "Psychomotor deterioration", "11": "Macrovesicular hepatic steatosis", "12": "Progressive gait ataxia", "13": "Abnormality of corneal stroma", "14": "Abnormal brain lactate level by mrs", "15": "Inverted nipples", "16": "Abnormal tissue metabolite concentration", "17": "Cytochrome c oxidase negative muscle fibers", "18": "Progressive external ophthalmoplegia", "19": "Deep palmar crease", "20": "Nasogastric tube feeding in infancy", "21": "Emg chronic denervation signs", "22": "Decreased absent ankle reflexes", "23": "Epiphyseal stippling", "24": "Abnormal csf protein level", "25": "Ragged red muscle fibers", "26": "Mania", "27": "Hypoketotic hypoglycemia", "28": "Primary adrenal insufficiency", "29": "Clumsiness", "30": "Abnormal blood transition element cation concentration", "31": "Abnormal biliary tract morphology", "32": "Abnormal metabolic brain imaging by mrs", "33": "Neuronal loss in central nervous system", "34": "Episodic vomiting", "35": "Achilles tendon contracture", "36": "Abnormality of the achilles tendon", "37": "Progressive spasticity", "38": "Abnormal retinal artery morphology", "39": "Polyneuropathy", "40": "Focal t2 hyperintense brainstem lesion", "41": "Abnormal mitochondria in muscle tissue", "42": "Underdeveloped supraorbital ridges", "43": "Dysdiadochokinesis", "44": "Decreased circulating igg level", "45": "Left ventricular hypertrophy", "46": "Focal white matter lesions", "47": "Abnormal sensory nerve conduction velocity", "48": "Thin ribs", "49": "Abnormal epiphyseal ossification"} |