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{"0": "Abnormal femoral neck head morphology", "1": "Abnormal muscle fiber morphology", "2": "Impaired proprioception", "3": "Abnormal circulating lipid concentration", "4": "Abnormality of salivation", "5": "Abnormal peripheral nervous system physiology", "6": "Bowing of the legs", "7": "Abnormality of epiphysis morphology", "8": "Action tremor", "9": "Abnormality of the larynx", "10": "Hepatic failure", "11": "Lower limb muscle weakness", "12": "Abnormal exteroceptive sensation", "13": "Talipes equinovarus", "14": "Abnormal lower motor neuron morphology", "15": "Abnormality of the calf", "16": "Juvenile onset", "17": "Proximal muscle weakness", "18": "Slowly progressive", "19": "Lissencephaly", "20": "Abnormal oral physiology", "21": "Abnormality of femur morphology", "22": "Abnormality of subcutaneous fat tissue", "23": "Optic disc pallor", "24": "Peripheral axonal neuropathy", "25": "Abnormal lung development", "26": "Disproportionate short stature", "27": "Distal muscle weakness", "28": "Polymicrogyria", "29": "Disproportionate short limb short stature", "30": "Tetraplegia tetraparesis", "31": "Abnormal adipose tissue morphology", "32": "Broad nasal tip", "33": "Positional foot deformity", "34": "Hand muscle weakness", "35": "Peripheral axonal degeneration", "36": "Muscle spasm", "37": "Amyotrophic lateral sclerosis", "38": "Dysmetria", "39": "Frontotemporal dementia", "40": "Abnormal waist to hip ratio", "41": "Distal lower limb amyotrophy", "42": "Dental crowding", "43": "Hyperlipidemia", "44": "Gait ataxia", "45": "Weakness of muscles of respiration", "46": "Variable expressivity", "47": "Shallow orbits", "48": "Thick hair", "49": "Distal amyotrophy"}