| {"0": "Contractures of the joints of the upper limbs", "1": "Abnormal muscle fiber morphology", "2": "Sensorimotor neuropathy", "3": "Limb joint contracture", "4": "Action tremor", "5": "Biliary tract abnormality", "6": "Peripheral axonal neuropathy", "7": "Muscle abnormality related to mitochondrial dysfunction", "8": "Focal segmental glomerulosclerosis", "9": "Abnormality of the cerebrospinal fluid", "10": "Joint contracture of the hand", "11": "Retinopathy", "12": "Sensory neuropathy", "13": "Abnormal biliary tract morphology", "14": "Brittle hair", "15": "Abnormality of the mitochondrion", "16": "Exercise intolerance", "17": "Agenesis of corpus callosum", "18": "Peripheral axonal degeneration", "19": "Memory impairment", "20": "Delayed cranial suture closure", "21": "Increased csf lactate", "22": "Abnormality of retinal pigmentation", "23": "Capillary hemangioma", "24": "Pigmentary retinopathy", "25": "Toe walking", "26": "Impaired social interactions", "27": "Retrognathia", "28": "Fluctuations in consciousness", "29": "Mitochondrial myopathy", "30": "Optic neuropathy", "31": "Myoclonus", "32": "Polymicrogyria", "33": "Phenotypic variability", "34": "Abnormal social behavior", "35": "Abnormal mitochondria in muscle tissue", "36": "Muscle spasm", "37": "Abnormal csf metabolite level", "38": "Abnormal chorioretinal morphology", "39": "Abnormal choroid morphology", "40": "Abnormality of fontanelles", "41": "Cerebral visual impairment", "42": "Abnormality of the musculature of the lower limbs", "43": "Hemiplegia hemiparesis", "44": "Abnormality of hepatobiliary system physiology", "45": "Abnormal circulating lipid concentration", "46": "Contractures of the joints of the lower limbs", "47": "Deep palmar crease", "48": "Episodic vomiting", "49": "Abnormal activity of mitochondrial respiratory chain"} |