| {"0": "Abnormal circulating lipid concentration", "1": "Mental deterioration", "2": "Disproportionate short stature", "3": "Splenomegaly", "4": "Cognitive impairment", "5": "Abnormal circulating cholesterol concentration", "6": "Blindness", "7": "Myoclonus", "8": "Abnormal visual electrophysiology", "9": "Optic disc pallor", "10": "Abnormality of the ribs", "11": "Horizontal nystagmus", "12": "Abnormal rib cage morphology", "13": "Abnormality of head blood vessel", "14": "Dementia", "15": "Biliary tract abnormality", "16": "Contractures of the joints of the upper limbs", "17": "Abnormal muscle fiber morphology", "18": "Corneal opacity", "19": "Sensorimotor neuropathy", "20": "Nephrotic syndrome", "21": "Abnormal retinal artery morphology", "22": "Abnormality of pulmonary circulation", "23": "Abnormality of the upper respiratory tract", "24": "Abnormal social behavior", "25": "Abnormality of femur morphology", "26": "Abnormality of epiphysis morphology", "27": "Muscle abnormality related to mitochondrial dysfunction", "28": "Delusions", "29": "Osteoarthritis", "30": "Ventricular hypertrophy", "31": "Proportionate short stature", "32": "Abnormality of the peripheral nervous system", "33": "Abnormal biliary tract morphology", "34": "Abnormality of upper limb joint", "35": "Elevated pulmonary artery pressure", "36": "Increased bone mineral density", "37": "Abnormality of visual evoked potentials", "38": "Abnormal sternum morphology", "39": "Disproportionate short limb short stature", "40": "Positional foot deformity", "41": "Abnormal tissue metabolite concentration", "42": "Areflexia of lower limbs", "43": "Cherry red spot of the macula", "44": "Delayed cranial suture closure", "45": "Cns demyelination", "46": "Clumsiness", "47": "Abnormality of the vasculature of the eye", "48": "Dysostosis multiplex", "49": "Abnormal enchondral ossification"} |