| {"0": "Dry skin", "1": "Pleural effusion", "2": "Abnormal circulating bilirubin concentration", "3": "Cardiac conduction abnormality", "4": "Spondyloepimetaphyseal dysplasia", "5": "Hand polydactyly", "6": "Incomplete penetrance", "7": "Dyscalculia", "8": "Abnormal hair whorl", "9": "Gray matter heterotopia", "10": "Abnormality of the metacarpal bones", "11": "Easy fatigability", "12": "Abnormal circulating dicarboxylic acid concentration", "13": "Abnormal urine ph", "14": "Ragged red muscle fibers", "15": "Knee flexion contracture", "16": "Aplasia hypoplasia affecting the fundus", "17": "Cerebral palsy", "18": "Retinopathy", "19": "High narrow palate", "20": "Organic aciduria", "21": "Plagiocephaly", "22": "Abnormality of fontanelles", "23": "Severe muscular hypotonia", "24": "Keratoconjunctivitis", "25": "Keratitis", "26": "Limb hypertonia", "27": "Brain imaging abnormality", "28": "Vascular neoplasm", "29": "Cafe au lait spot", "30": "Convex nasal ridge", "31": "Abnormality of the tarsal bones", "32": "Neoplasm of the nervous system", "33": "Toe syndactyly", "34": "Broad eyebrow", "35": "Cutaneous photosensitivity", "36": "Large face", "37": "Frontotemporal dementia", "38": "Abnormal sclera morphology", "39": "Abnormal epiphyseal ossification", "40": "Degeneration of the lateral corticospinal tracts", "41": "Tapered finger", "42": "Broad long bones", "43": "Abnormal pleura morphology", "44": "Telangiectasia", "45": "Abnormality of thalamus morphology", "46": "Limited elbow extension", "47": "Gastrointestinal hemorrhage", "48": "Sarcoma", "49": "Coloboma"} |