| {"0": "Abnormal circulating lipid concentration", "1": "Abnormal circulating cholesterol concentration", "2": "Hyperlipidemia", "3": "Muscle stiffness", "4": "Tapered finger", "5": "Skin dimple", "6": "Abnormal sacrum morphology", "7": "Respiratory failure", "8": "Vascular skin abnormality", "9": "Abnormal heart valve morphology", "10": "Corneal opacity", "11": "Abnormal conjunctiva morphology", "12": "Increased bone mineral density", "13": "Phenotypic variability", "14": "Contractures of the joints of the upper limbs", "15": "Abnormality of the septum pellucidum", "16": "Delayed puberty", "17": "Abnormality of head blood vessel", "18": "Abnormal biliary tract morphology", "19": "Cherry red spot of the macula", "20": "Osteopenia", "21": "Ventricular hypertrophy", "22": "Biliary tract abnormality", "23": "Posteriorly rotated ears", "24": "Knee flexion contracture", "25": "Mental deterioration", "26": "Contractures of the joints of the lower limbs", "27": "Psychomotor deterioration", "28": "Variable expressivity", "29": "Narrow mouth", "30": "Abnormality of thyroid physiology", "31": "Dolichocephaly", "32": "Cirrhosis", "33": "Disproportionate short stature", "34": "Long fingers", "35": "Clumsiness", "36": "Abnormal lymphocyte morphology", "37": "Abnormality of femur morphology", "38": "Hypotension", "39": "Abnormal retinal artery morphology", "40": "Limb joint contracture", "41": "Joint contracture of the hand", "42": "Proportionate short stature", "43": "Decreased muscle mass", "44": "Aplasia hypoplasia of the skin", "45": "Abnormal aortic valve physiology", "46": "Unsteady gait", "47": "Deep palmar crease", "48": "Abnormal paranasal sinus morphology", "49": "Ragged red muscle fibers"} |