| {"0": "Incoordination", "1": "Frequent falls", "2": "Platyspondyly", "3": "Disproportionate short stature", "4": "Postural tremor", "5": "Proportionate short stature", "6": "Disproportionate short limb short stature", "7": "Sensorimotor neuropathy", "8": "Tinnitus", "9": "Subcutaneous nodule", "10": "Abnormality of femur morphology", "11": "Abnormal muscle fiber morphology", "12": "Abnormal circulating lipid concentration", "13": "Action tremor", "14": "Rhizomelia", "15": "Horizontal nystagmus", "16": "Abnormal conjunctiva morphology", "17": "Abnormal circulating cholesterol concentration", "18": "Polyneuropathy", "19": "Abnormal femoral neck head morphology", "20": "Abnormal biliary tract morphology", "21": "Skin nodule", "22": "Increased susceptibility to fractures", "23": "Abnormal cranial nerve physiology", "24": "Micromelia", "25": "Open mouth", "26": "Abnormal peripheral nervous system physiology", "27": "Knee flexion contracture", "28": "Contractures of the joints of the upper limbs", "29": "Abnormal nerve conduction velocity", "30": "Central scotoma", "31": "Ragged red muscle fibers", "32": "Impaired proprioception", "33": "Areflexia of lower limbs", "34": "Hypokinesia", "35": "Abnormal femoral neck morphology", "36": "Diminished movement", "37": "Abnormality of peripheral nerves", "38": "Avascular necrosis", "39": "Limb undergrowth", "40": "Progressive visual loss", "41": "Ectrodactyly", "42": "Distal muscle weakness", "43": "Abnormal visual electrophysiology", "44": "Nasogastric tube feeding in infancy", "45": "Muscle spasm", "46": "Coxa vara", "47": "Increased bone mineral density", "48": "Abnormal enchondral ossification", "49": "Slowly progressive"} |