| {"0": "Myoclonus", "1": "Abnormal circulating cholesterol concentration", "2": "Limb joint contracture", "3": "Tapered finger", "4": "Vascular skin abnormality", "5": "Difficulty walking", "6": "Ventricular arrhythmia", "7": "Variable expressivity", "8": "Abnormal circulating lipid concentration", "9": "Biliary tract abnormality", "10": "Clumsiness", "11": "Dysdiadochokinesis", "12": "Delusions", "13": "Generalized onset seizure", "14": "Abnormal biliary tract morphology", "15": "Arthritis", "16": "Contractures of the joints of the upper limbs", "17": "Corneal opacity", "18": "Duplication involving bones of the feet", "19": "Disproportionate short stature", "20": "Increased bone mineral density", "21": "Tachycardia", "22": "Muscle stiffness", "23": "Abnormal oral mucosa morphology", "24": "Abnormality of the phalanges of the toes", "25": "Rhizomelia", "26": "Erythema", "27": "Hand polydactyly", "28": "Ectrodactyly", "29": "Limb ataxia", "30": "Abnormality of the tarsal bones", "31": "Phenotypic variability", "32": "Abnormality of the 5th toe", "33": "Postaxial foot polydactyly", "34": "Abnormality of the gingiva", "35": "Progressive gait ataxia", "36": "Ventricular tachycardia", "37": "Osteoarthritis", "38": "Emg neuropathic changes", "39": "Horizontal nystagmus", "40": "Duplication of hand bones", "41": "Incoordination", "42": "Increased circulating antibody level", "43": "Neuronal loss in central nervous system", "44": "Abnormality of humoral immunity", "45": "Abnormality of the spleen", "46": "Abnormal hand morphology", "47": "Eeg with spike wave complexes", "48": "Abnormality of corneal stroma", "49": "Hyperlipidemia"} |