{"0": "Episodic vomiting", "1": "Bulbar signs", "2": "Ectrodactyly", "3": "Abnormality of corneal stroma", "4": "Abnormal peripheral nervous system physiology", "5": "Action tremor", "6": "Disproportionate short stature", "7": "Memory impairment", "8": "Polydactyly", "9": "Coxa vara", "10": "Disproportionate short limb short stature", "11": "Abnormal auditory evoked potentials", "12": "Preaxial polydactyly", "13": "Frontotemporal dementia", "14": "Slender long bone", "15": "Schizophrenia", "16": "Abnormal muscle fiber morphology", "17": "Inflammation of the large intestine", "18": "Tetraplegia", "19": "Infectious encephalitis", "20": "Abnormality of globe size", "21": "Abnormality of epiphysis morphology", "22": "Central nervous system cyst", "23": "Micropenis", "24": "Narrow mouth", "25": "Migraine", "26": "Joint contracture of the hand", "27": "Hand polydactyly", "28": "Contractures of the joints of the upper limbs", "29": "Exercise intolerance", "30": "Macular degeneration", "31": "Neuronal loss in central nervous system", "32": "Dementia", "33": "Sensorimotor neuropathy", "34": "Abnormal uvula morphology", "35": "Aplasia hypoplasia of the femur", "36": "Submucous cleft of soft and hard palate", "37": "Dry skin", "38": "Keratoconjunctivitis", "39": "Abnormality of peripheral nerves", "40": "Hypoplastic vertebral bodies", "41": "Thoracic kyphosis", "42": "Intestinal malrotation", "43": "Zonular cataract", "44": "Psychomotor deterioration", "45": "Muscle stiffness", "46": "Aplasia hypoplasia involving the pelvis", "47": "Abnormal biliary tract morphology", "48": "Abnormal nerve conduction velocity", "49": "Abnormal acetabulum morphology"}