| {"0": "Localized skin lesion", "1": "Congenital onset", "2": "Cerebral palsy", "3": "Cerebellar hypoplasia", "4": "Abnormality of circulating enzyme level", "5": "Rhizomelia", "6": "Thickened skin", "7": "Posteriorly rotated ears", "8": "Abnormality of the middle ear", "9": "Micromelia", "10": "Neoplasm by histology", "11": "Abnormal cortical gyration", "12": "Aplasia hypoplasia of the extremities", "13": "Abnormal circulating metabolite concentration", "14": "Displacement of the urethral meatus", "15": "Abnormality of the female genitalia", "16": "Abnormal internal genitalia", "17": "Abnormality of the curvature of the vertebral column", "18": "Abnormality of the breast", "19": "Puberty and gonadal disorders", "20": "Functional abnormality of the inner ear", "21": "Abnormality of the urethra", "22": "Abnormality of mouth size", "23": "Abnormality of neuronal migration", "24": "Abnormal cerebral cortex morphology", "25": "Sensory axonal neuropathy", "26": "Disproportionate short limb short stature", "27": "Aplasia hypoplasia of the cerebellum", "28": "Reduced consciousness confusion", "29": "Abnormality of skin physiology", "30": "Congenital malformation of the great arteries", "31": "Abnormal enzyme coenzyme activity", "32": "Venous insufficiency", "33": "Regional abnormality of skin", "34": "Abnormal inflammatory response", "35": "Abnormal involuntary eye movements", "36": "Dysarthria", "37": "Abnormal 5th finger morphology", "38": "Delayed gross motor development", "39": "Reduced visual acuity", "40": "Weakness due to upper motor neuron dysfunction", "41": "Generalized hypotonia", "42": "Abnormality of the palm", "43": "Sparse body hair", "44": "Abnormal circulating protein concentration", "45": "Abnormality of the nasal alae", "46": "Hypoplasia of penis", "47": "Abnormality of the nail", "48": "Abnormality of the lower urinary tract", "49": "Aplasia hypoplasia involving the skeleton"} |