{"0": "Abnormal circulating lipid concentration", "1": "Abnormal circulating cholesterol concentration", "2": "Contractures of the joints of the upper limbs", "3": "Disproportionate short stature", "4": "Abnormal biliary tract morphology", "5": "Limited elbow movement", "6": "Tapered finger", "7": "Variable expressivity", "8": "Secondary microcephaly", "9": "Abnormality of femur morphology", "10": "Biliary tract abnormality", "11": "Dysmetria", "12": "Abnormality of the 5th toe", "13": "Postaxial foot polydactyly", "14": "Dermal atrophy", "15": "Abnormality of the wrist", "16": "Hypocholesterolemia", "17": "Clumsiness", "18": "Clonus", "19": "Abnormality of the tarsal bones", "20": "Progressive gait ataxia", "21": "Muscle stiffness", "22": "Elbow flexion contracture", "23": "Ventricular arrhythmia", "24": "Aplasia hypoplasia involving the femoral head and neck", "25": "Diffuse cerebral atrophy", "26": "Abnormal epiphyseal ossification", "27": "Memory impairment", "28": "Splenomegaly", "29": "Delusions", "30": "Cns demyelination", "31": "Aplasia hypoplasia of the femur", "32": "Increased bone mineral density", "33": "Decreased head circumference", "34": "Skeletal dysplasia", "35": "Abnormal femoral neck morphology", "36": "Abnormality of epiphysis morphology", "37": "Migraine", "38": "Gray matter heterotopia", "39": "Abnormal csf protein level", "40": "Young adult onset", "41": "Abnormality of the elbow", "42": "Tachycardia", "43": "Contractures of the joints of the lower limbs", "44": "Sensorimotor neuropathy", "45": "Dysdiadochokinesis", "46": "Thin skin", "47": "Optic disc pallor", "48": "Ventricular tachycardia", "49": "Abnormal pharynx morphology"}