| {"0": "Disproportionate short limb short stature", "1": "Neoplasm of the adrenal gland", "2": "Amyotrophic lateral sclerosis", "3": "Biliary cirrhosis", "4": "Periventricular heterotopia", "5": "Recurrent otitis media", "6": "Abnormal erythrocyte enzyme level", "7": "Progressive external ophthalmoplegia", "8": "Goiter", "9": "Partial duplication of the phalanx of hand", "10": "Epiphyseal stippling", "11": "Agitation", "12": "Erythroid hypoplasia", "13": "Fatigable weakness of respiratory muscles", "14": "Lower limb hyperreflexia", "15": "Osteosarcoma", "16": "Macrocytic anemia", "17": "Abnormal enchondral ossification", "18": "Abnormality of the thenar eminence", "19": "Limb undergrowth", "20": "Abnormal epiphyseal ossification", "21": "Fatigable weakness of bulbar muscles", "22": "Ventricular hypertrophy", "23": "Abnormal number of erythroid precursors", "24": "Pure red cell aplasia", "25": "Fatigable weakness of swallowing muscles", "26": "Developmental cataract", "27": "Sarcoma", "28": "Oligomenorrhea", "29": "Developmental glaucoma", "30": "Platyspondyly", "31": "Abnormality of the ovary", "32": "Otitis media", "33": "Malignant genitourinary tract tumor", "34": "Nonimmune hydrops fetalis", "35": "Scrotal hypoplasia", "36": "Ectrodactyly", "37": "Neoplasm of the skeletal system", "38": "Abnormality of the tarsal bones", "39": "Abnormality of the parathyroid gland", "40": "Adenocarcinoma of the colon", "41": "Partial agenesis of the corpus callosum", "42": "Lymphopenia", "43": "Personality changes", "44": "Cardiac conduction abnormality", "45": "Micropenis", "46": "Disproportionate short stature", "47": "Brisk reflexes", "48": "Hypoventilation", "49": "Blue sclerae"} |