{"0": "Limb joint contracture", "1": "Disproportionate short limb short stature", "2": "Disproportionate short stature", "3": "Contractures of the joints of the upper limbs", "4": "Joint contracture of the hand", "5": "Dysostosis multiplex", "6": "Action tremor", "7": "Unsteady gait", "8": "Unusual fungal infection", "9": "Progressive visual loss", "10": "Memory impairment", "11": "Postural tremor", "12": "Polyneuropathy", "13": "Fibrous tissue neoplasm", "14": "Soft tissue sarcoma", "15": "Abnormal lymphocyte morphology", "16": "Abnormal paranasal sinus morphology", "17": "Abnormal tendon morphology", "18": "Abnormality of the peripheral nervous system", "19": "Visual loss", "20": "Zonular cataract", "21": "Myoclonus", "22": "Increased circulating antibody level", "23": "Impaired proprioception", "24": "Sensorimotor neuropathy", "25": "Increased intracranial pressure", "26": "Intestinal polyp", "27": "Abnormal conjunctiva morphology", "28": "Lymphopenia", "29": "Variable expressivity", "30": "Skeletal muscle hypertrophy", "31": "Bowing of the legs", "32": "Paresthesia", "33": "Abnormality of upper limb joint", "34": "Phenotypic variability", "35": "Abnormal femoral neck head morphology", "36": "Sloping forehead", "37": "Cupped ear", "38": "Splenomegaly", "39": "Abnormality of the septum pellucidum", "40": "Restlessness", "41": "Clubbing", "42": "Abnormality of the spleen", "43": "Abnormal uvula morphology", "44": "Multiple cafe au lait spots", "45": "Ragged red muscle fibers", "46": "Abnormality of the phalanges of the toes", "47": "Gray matter heterotopia", "48": "Abnormality of the columella", "49": "Abnormality of the calf"}