| {"0": "Cognitive impairment", "1": "Phenotypic variability", "2": "Mental deterioration", "3": "Ventricular hypertrophy", "4": "Abnormal muscle fiber morphology", "5": "Functional motor deficit", "6": "Dysphagia", "7": "Neck muscle weakness", "8": "Variable expressivity", "9": "Dementia", "10": "Pace of progression", "11": "Toe walking", "12": "Ventricular arrhythmia", "13": "Bulbar signs", "14": "Abnormality of facial soft tissue", "15": "Aspiration pneumonia", "16": "Abnormality of extrapyramidal motor function", "17": "Exercise intolerance", "18": "Parkinsonism", "19": "Scotoma", "20": "Central scotoma", "21": "Supranuclear gaze palsy", "22": "Poor suck", "23": "Horizontal nystagmus", "24": "Muscle fiber atrophy", "25": "Tachycardia", "26": "Foot dorsiflexor weakness", "27": "Abnormality of the achilles tendon", "28": "Polyneuropathy", "29": "Incomplete penetrance", "30": "Myopathy", "31": "Gait ataxia", "32": "Abnormal circulating lipid concentration", "33": "Prenatal maternal abnormality", "34": "Achilles tendon contracture", "35": "Sensorimotor neuropathy", "36": "Limited elbow movement", "37": "Hyperintensity of cerebral white matter on mri", "38": "Abnormal biliary tract morphology", "39": "Abnormal circulating cholesterol concentration", "40": "Scapular winging", "41": "Biliary tract abnormality", "42": "Gastrostomy tube feeding in infancy", "43": "Abnormality of circulating enzyme level", "44": "Increased connective tissue", "45": "Slowly progressive", "46": "Postaxial foot polydactyly", "47": "Color vision defect", "48": "Abnormality of the tongue", "49": "Myoclonus"} |