| {"0": "Mucosal telangiectasiae", "1": "Abnormality of corneal stroma", "2": "Postaxial foot polydactyly", "3": "Abnormality of the 5th toe", "4": "Cherry red spot of the macula", "5": "Rhizomelia", "6": "Abnormality of glycolipid metabolism", "7": "Episodic vomiting", "8": "Periventricular white matter hyperintensities", "9": "Arteriosclerosis", "10": "Macular degeneration", "11": "Cerebral inclusion bodies", "12": "Epiphyseal stippling", "13": "Bilateral cryptorchidism", "14": "Pathologic fracture", "15": "Progressive psychomotor deterioration", "16": "Amyotrophic lateral sclerosis", "17": "Abnormal retinal artery morphology", "18": "Zonular cataract", "19": "Abnormal epiphyseal ossification", "20": "Slender long bone", "21": "Hypothermia", "22": "Abnormality of prothrombin", "23": "Disproportionate short limb short stature", "24": "Supranuclear gaze palsy", "25": "Abnormal pericardium morphology", "26": "Abnormality of head blood vessel", "27": "Abnormal biliary tract morphology", "28": "Duplication involving bones of the feet", "29": "Ectrodactyly", "30": "Focal motor seizure", "31": "Mania", "32": "Disproportionate short stature", "33": "Ectopic anus", "34": "Clumsiness", "35": "Thoracic kyphosis", "36": "Postaxial hand polydactyly", "37": "Coxa vara", "38": "Postural tremor", "39": "Increased bone mineral density", "40": "Abnormal circulating cholesterol concentration", "41": "Abnormal tissue metabolite concentration", "42": "Abnormal corneal epithelium morphology", "43": "Orthostatic hypotension", "44": "Abnormality of the gastric mucosa", "45": "Motor neuron atrophy", "46": "Schizophrenia", "47": "Biliary tract abnormality", "48": "Abnormal metabolic brain imaging by mrs", "49": "Abnormal thoracic spine morphology"} |