| {"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Phenotypic variability", "3": "Variable expressivity", "4": "Abnormal retinal morphology", "5": "Abnormality of coordination", "6": "Abnormal biliary tract morphology", "7": "Abnormal bone structure", "8": "Abnormal circulating lipid concentration", "9": "Biliary tract abnormality", "10": "Abnormal myocardium morphology", "11": "Abnormality of retinal pigmentation", "12": "Optic disc pallor", "13": "Ichthyosis", "14": "Respiratory insufficiency", "15": "Thickened skin", "16": "Dementia", "17": "Corneal opacity", "18": "Abnormality of the larynx", "19": "Delusions", "20": "Micromelia", "21": "Visual field defect", "22": "Postural tremor", "23": "Pain", "24": "Abnormal epiphyseal ossification", "25": "Abnormality of the biliary system", "26": "Abnormality of lower limb joint", "27": "Abnormal retinal artery morphology", "28": "Abnormal circulating cholesterol concentration", "29": "Muscle abnormality related to mitochondrial dysfunction", "30": "Horizontal nystagmus", "31": "Abnormal cellular phenotype", "32": "Abnormal enchondral ossification", "33": "Arthritis", "34": "Abnormal nervous system electrophysiology", "35": "Central scotoma", "36": "Respiratory failure", "37": "Mitochondrial myopathy", "38": "Rhizomelia", "39": "Abnormality of head blood vessel", "40": "Epiphyseal stippling", "41": "Depression", "42": "Clumsiness", "43": "Gait ataxia", "44": "Skin nodule", "45": "Pace of progression", "46": "Abnormality of the parathyroid gland", "47": "Abnormality of the mitochondrion", "48": "Progressive gait ataxia", "49": "Paraparesis"} |