| {"0": "Bulbar signs", "1": "Peripheral axonal degeneration", "2": "Morphological abnormality of the pyramidal tract", "3": "Peripheral demyelination", "4": "Horizontal nystagmus", "5": "Abnormal peripheral myelination", "6": "Sensorimotor neuropathy", "7": "Peripheral axonal neuropathy", "8": "Visual loss", "9": "Abnormal csf protein level", "10": "Emg chronic denervation signs", "11": "Respiratory distress", "12": "Generalized myoclonic seizure", "13": "Ragged red muscle fibers", "14": "Lower limb muscle weakness", "15": "Polyneuropathy", "16": "Abnormality of the tongue", "17": "Sensory neuropathy", "18": "Abnormality of the musculature of the lower limbs", "19": "Elevated pulmonary artery pressure", "20": "Abnormality of the phalanges of the toes", "21": "Limb muscle weakness", "22": "Fever", "23": "Abnormality of pulmonary circulation", "24": "Nephropathy", "25": "Abnormality of temperature regulation", "26": "Abnormal biliary tract morphology", "27": "Abnormal renal tubule morphology", "28": "Personality changes", "29": "Areflexia", "30": "Abnormal circulating lipid concentration", "31": "Areflexia of lower limbs", "32": "Cardiac conduction abnormality", "33": "Abnormal circulating non proteinogenic amino acid concentration", "34": "Abnormal sternum morphology", "35": "Impaired vibration sensation in the lower limbs", "36": "Young adult onset", "37": "Aplasia hypoplasia involving bones of the thorax", "38": "Submucous cleft of soft and hard palate", "39": "Muscle abnormality related to mitochondrial dysfunction", "40": "Variable expressivity", "41": "Short palpebral fissure", "42": "Cns demyelination", "43": "Ventricular arrhythmia", "44": "Distal lower limb muscle weakness", "45": "Abnormal muscle fiber morphology", "46": "Postural tremor", "47": "Abnormal chorioretinal morphology", "48": "Abnormal choroid morphology", "49": "Episodic vomiting"} |