| {"0": "Central scotoma", "1": "Cognitive impairment", "2": "Scotoma", "3": "Reduced visual acuity", "4": "Dementia", "5": "Optic disc pallor", "6": "Mental deterioration", "7": "Abnormal biliary tract morphology", "8": "Skin nodule", "9": "Postural tremor", "10": "Optic neuropathy", "11": "Biliary tract abnormality", "12": "Subcutaneous nodule", "13": "Visual field defect", "14": "Abnormal circulating lipid concentration", "15": "Gastrointestinal hemorrhage", "16": "Pain", "17": "Abnormal conjunctiva morphology", "18": "Abnormality of pancreas physiology", "19": "Disproportionate short stature", "20": "Bulbar signs", "21": "Micromelia", "22": "Abdominal pain", "23": "Blindness", "24": "Abnormal brainstem mri signal intensity", "25": "Dysphagia", "26": "Arthralgia", "27": "Skin rash", "28": "Motor neuron atrophy", "29": "Progressive cerebellar ataxia", "30": "Paraparesis", "31": "Increased bone mineral density", "32": "Abnormal mitochondria in muscle tissue", "33": "Leukodystrophy", "34": "Abnormal muscle fiber morphology", "35": "Muscle stiffness", "36": "Nausea and vomiting", "37": "Ascites", "38": "Spastic paraparesis", "39": "Abnormality of blood circulation", "40": "Abnormality of the vasculature of the eye", "41": "Amyotrophic lateral sclerosis", "42": "Rigidity", "43": "Decreased activity of mitochondrial complex i", "44": "Action tremor", "45": "Focal t2 hyperintense brainstem lesion", "46": "Increased serum pyruvate", "47": "Contractures of the joints of the upper limbs", "48": "Abnormality of temperature regulation", "49": "Disproportionate short limb short stature"} |