| {"0": "Lissencephaly", "1": "Cupped ear", "2": "Abnormality of the metaphysis", "3": "Peripheral axonal neuropathy", "4": "Sarcoma", "5": "Metaphyseal dysplasia", "6": "Sensory axonal neuropathy", "7": "Keratoconjunctivitis", "8": "Fragile nails", "9": "Disproportionate short limb short stature", "10": "Limb undergrowth", "11": "Peripheral axonal degeneration", "12": "Hyperthyroidism", "13": "Enlarged thorax", "14": "Ventricular tachycardia", "15": "Partial agenesis of the corpus callosum", "16": "Neoplasm of the nervous system", "17": "Abnormal astrocyte morphology", "18": "Neoplasm of the skeletal system", "19": "Disproportionate short stature", "20": "Pituitary adenoma", "21": "Epidermal acanthosis", "22": "Neoplasm of the skin", "23": "Neoplasm of the pituitary gland", "24": "Hamartoma", "25": "Abnormality of pancreas physiology", "26": "Skin rash", "27": "Abnormal corneal epithelium morphology", "28": "Astrocytoma", "29": "Organic aciduria", "30": "Tinnitus", "31": "Abnormality of the helix", "32": "Bilateral cryptorchidism", "33": "Abnormal urine ph", "34": "Micromelia", "35": "Abnormal corpus striatum morphology", "36": "Impaired pain sensation", "37": "Neutropenia in presence of anti neutropil antibodies", "38": "Somatic mutation", "39": "Ragged red muscle fibers", "40": "Abnormality of the calf", "41": "Migraine", "42": "Relative macrocephaly", "43": "Abnormal circulating amino acid concentration", "44": "Neoplasm of the oral cavity", "45": "Keratitis", "46": "Abnormality of the parathyroid gland", "47": "Sensory neuropathy", "48": "Thyroiditis", "49": "Progressive external ophthalmoplegia"} |