| {"0": "Unsteady gait", "1": "Slowly progressive", "2": "Retinal degeneration", "3": "Lower limb muscle weakness", "4": "Talipes equinovarus", "5": "Bowing of the legs", "6": "Abnormal femoral neck head morphology", "7": "Abnormality of the larynx", "8": "Action tremor", "9": "Abnormal peripheral nervous system physiology", "10": "Abnormality of salivation", "11": "Corneal opacity", "12": "Aplasia hypoplasia involving bones of the feet", "13": "Impaired proprioception", "14": "Hepatic failure", "15": "Abnormality of the calf", "16": "Abnormality of the gingiva", "17": "Dysmetria", "18": "Distal muscle weakness", "19": "Abnormal thoracic spine morphology", "20": "Positive romberg sign", "21": "Abnormality of femur morphology", "22": "Distal amyotrophy", "23": "Distal lower limb amyotrophy", "24": "Proximal muscle weakness", "25": "Fasciculations", "26": "Positional foot deformity", "27": "Abnormal lung development", "28": "Lower limb amyotrophy", "29": "Incoordination", "30": "Abnormality of the posterior pituitary", "31": "Abnormal muscle fiber morphology", "32": "Abnormal meningeal morphology", "33": "Sensorimotor neuropathy", "34": "Abnormal oral physiology", "35": "Tall stature", "36": "Aplasia hypoplasia involving the vertebral column", "37": "Distal sensory impairment", "38": "Difficulty walking", "39": "Ectrodactyly", "40": "Disproportionate short stature", "41": "Clumsiness", "42": "Abnormality of cranial sutures", "43": "Abnormal metatarsal morphology", "44": "Insulin resistance", "45": "Increased susceptibility to fractures", "46": "Aplasia hypoplasia involving bones of the lower limbs", "47": "Aortic aneurysm", "48": "Limb muscle weakness", "49": "Hip dysplasia"} |