| {"0": "Impaired proprioception", "1": "Horizontal nystagmus", "2": "Disproportionate short stature", "3": "Hyperlipidemia", "4": "Hand polydactyly", "5": "Disproportionate short limb short stature", "6": "Insulin resistance", "7": "Clumsiness", "8": "Proximal muscle weakness", "9": "Positive romberg sign", "10": "Action tremor", "11": "Visual loss", "12": "Limb ataxia", "13": "Abnormal visual electrophysiology", "14": "Sensorimotor neuropathy", "15": "Cutaneous photosensitivity", "16": "Retinal degeneration", "17": "Aganglionic megacolon", "18": "Retinopathy", "19": "Polyneuropathy", "20": "Limb muscle weakness", "21": "Limb pain", "22": "Incoordination", "23": "Muscle spasm", "24": "Slender long bone", "25": "Hepatic failure", "26": "Aplasia hypoplasia involving the vertebral column", "27": "Airway obstruction", "28": "Polydactyly", "29": "Abnormal ureter morphology", "30": "Abnormal lung lobation", "31": "Abnormality of visual evoked potentials", "32": "Muscle stiffness", "33": "Duplication involving bones of the feet", "34": "Nephrotic syndrome", "35": "Abnormal circulating lipid concentration", "36": "Kinetic tremor", "37": "Abnormality of the ribs", "38": "Postaxial polydactyly", "39": "Arthritis", "40": "Distal muscle weakness", "41": "Ventricular arrhythmia", "42": "Aplasia hypoplasia involving bones of the thorax", "43": "Rhizomelia", "44": "Morphological abnormality of the pyramidal tract", "45": "Hypertriglyceridemia", "46": "Proximal muscle weakness in upper limbs", "47": "Cardiac conduction abnormality", "48": "Waddling gait", "49": "Frequent falls"} |