| {"0": "Dementia", "1": "Abnormal choroid morphology", "2": "Ragged red muscle fibers", "3": "Corneal opacity", "4": "Mental deterioration", "5": "Biliary tract abnormality", "6": "Abnormal chorioretinal morphology", "7": "Abnormal biliary tract morphology", "8": "Limb ataxia", "9": "Abnormal muscle fiber morphology", "10": "Vascular skin abnormality", "11": "Phenotypic variability", "12": "Abnormal tissue metabolite concentration", "13": "Cognitive impairment", "14": "Functional motor deficit", "15": "Horizontal nystagmus", "16": "Paraparesis", "17": "Abnormality of pulmonary circulation", "18": "Abnormal vertebral morphology", "19": "Optic disc pallor", "20": "Visual loss", "21": "Decreased muscle mass", "22": "Variable expressivity", "23": "Sensorimotor neuropathy", "24": "Reduced visual acuity", "25": "Visual field defect", "26": "Abnormal vascular physiology", "27": "Impaired proprioception", "28": "Progressive visual loss", "29": "Tinnitus", "30": "Bulbar signs", "31": "Wide anterior fontanel", "32": "Abnormal retinal artery morphology", "33": "Skeletal dysplasia", "34": "Abnormal retinal vascular morphology", "35": "Abnormal sternum morphology", "36": "Primary adrenal insufficiency", "37": "Elevated pulmonary artery pressure", "38": "Retinopathy", "39": "Episodic vomiting", "40": "Polyneuropathy", "41": "Abnormal enchondral ossification", "42": "Abnormality of head blood vessel", "43": "Abnormality of fontanelles", "44": "Mitochondrial myopathy", "45": "Shoulder girdle muscle weakness", "46": "Muscle abnormality related to mitochondrial dysfunction", "47": "Ventricular hypertrophy", "48": "Abnormality of the biliary system", "49": "Dysmetria"} |