| {"0": "Abnormality of the peripheral nervous system", "1": "Abnormality of skin pigmentation", "2": "Breech presentation", "3": "Abnormal lower limb bone morphology", "4": "Rhizomelia", "5": "Aplasia hypoplasia affecting the eye", "6": "Abnormal uvea morphology", "7": "Abnormal cornea morphology", "8": "Nasogastric tube feeding in infancy", "9": "Congenital malformation of the great arteries", "10": "Inverted nipples", "11": "Abnormality of prenatal development or birth", "12": "Multiple prenatal fractures", "13": "Progeroid facial appearance", "14": "Cerebellar atrophy", "15": "Disproportionate short limb short stature", "16": "Distal upper limb amyotrophy", "17": "Limb joint contracture", "18": "Abnormal joint morphology", "19": "Generalized hypotonia", "20": "Abnormal anterior eye segment morphology", "21": "Abnormal cellular phenotype", "22": "Abnormal renal physiology", "23": "Abnormality of the palpebral fissures", "24": "Localized skin lesion", "25": "Abnormality of the kidney", "26": "Downslanted palpebral fissures", "27": "Slanting of the palpebral fissure", "28": "Abnormal morphology of the great vessels", "29": "Abnormality of long bone morphology", "30": "Abnormal involuntary eye movements", "31": "Disproportionate short stature", "32": "Abnormal systemic blood pressure", "33": "Metatarsus adductus", "34": "Abnormal delivery", "35": "Abnormality of the bladder", "36": "Onion bulb formation", "37": "Abnormal cardiac ventricle morphology", "38": "Abnormality of bone mineral density", "39": "Positional foot deformity", "40": "Abnormality of the cerebrospinal fluid", "41": "Glucose intolerance", "42": "Optic atrophy", "43": "Abnormal bone structure", "44": "Deep palmar crease", "45": "Respiratory insufficiency", "46": "Peripheral neuropathy", "47": "Congenital onset", "48": "Abnormality of the amniotic fluid", "49": "Abnormality of pelvic girdle bone morphology"} |