| {"0": "Cns hypomyelination", "1": "Abnormality of the musculature of the upper limbs", "2": "Ventricular arrhythmia", "3": "Tachycardia", "4": "Heterogeneous", "5": "Syncope", "6": "Emg abnormality", "7": "Heart block", "8": "Flexion contracture of digit", "9": "Lower limb muscle weakness", "10": "Emg neuropathic changes", "11": "Distal amyotrophy", "12": "Contractures of the joints of the lower limbs", "13": "Sleep apnea", "14": "Abnormal motor nerve conduction velocity", "15": "Nail dystrophy", "16": "Cardiac conduction abnormality", "17": "Abnormal pulmonary thoracic imaging finding", "18": "Dilated cardiomyopathy", "19": "Abnormality of the musculature of the hand", "20": "Muscle fibrillation", "21": "Joint contracture of the hand", "22": "Cardiac arrest", "23": "Limb girdle muscle weakness", "24": "Cerebral hypomyelination", "25": "Abnormality of hair texture", "26": "Foot dorsiflexor weakness", "27": "Sparse body hair", "28": "Plantar hyperkeratosis", "29": "Gastrointestinal carcinoma", "30": "Neoplasm of the large intestine", "31": "Limb joint contracture", "32": "Exertional dyspnea", "33": "Aplasia hypoplasia involving the skeletal musculature", "34": "Hallucinations", "35": "Retinal degeneration", "36": "Abnormal urine carboxylic acid level", "37": "Abnormal pulmonary interstitial morphology", "38": "Skeletal muscle atrophy", "39": "Macrocytic anemia", "40": "Abnormal nerve conduction velocity", "41": "Proximal muscle weakness", "42": "Inappropriate behavior", "43": "Limb ataxia", "44": "Emg chronic denervation signs", "45": "Abnormality of peripheral nerves", "46": "Limb muscle weakness", "47": "Abnormal phalangeal joint morphology of the hand", "48": "Distal muscle weakness", "49": "Alopecia"} |