| {"0": "Sensorimotor neuropathy", "1": "Peripheral axonal degeneration", "2": "Abnormality of head blood vessel", "3": "Abnormal retinal artery morphology", "4": "Demyelinating peripheral neuropathy", "5": "Peripheral demyelination", "6": "Bulbar signs", "7": "Contractures of the joints of the upper limbs", "8": "Mental deterioration", "9": "Abnormal cardiac ventricular function", "10": "Abnormal peripheral myelination", "11": "Abnormal csf protein level", "12": "Clumsiness", "13": "Peripheral axonal neuropathy", "14": "Abnormality of hepatobiliary system physiology", "15": "Progressive visual loss", "16": "Proximal muscle weakness", "17": "Juvenile onset", "18": "Abnormal muscle fiber morphology", "19": "Respiratory failure", "20": "Postural tremor", "21": "Toe walking", "22": "Dementia", "23": "Action tremor", "24": "Abnormality of the phalanges of the toes", "25": "Amyotrophic lateral sclerosis", "26": "Abnormal oral physiology", "27": "Myoclonus", "28": "Abnormality of salivation", "29": "Slowly progressive", "30": "Hepatic failure", "31": "Excessive salivation", "32": "Ectrodactyly", "33": "Emg neuropathic changes", "34": "Muscle abnormality related to mitochondrial dysfunction", "35": "Tinnitus", "36": "Horizontal nystagmus", "37": "Abnormality of the tongue", "38": "Psychosis", "39": "Biliary tract abnormality", "40": "Thin ribs", "41": "Decreased number of peripheral myelinated nerve fibers", "42": "Abnormal visual electrophysiology", "43": "Abnormal circulating lipid concentration", "44": "Diffuse white matter abnormalities", "45": "Abnormal larynx physiology", "46": "Gait ataxia", "47": "Infantile muscular hypotonia", "48": "Variable expressivity", "49": "Retinal dysplasia"} |