| {"0": "Abnormal pulmonary interstitial morphology", "1": "Biliary tract abnormality", "2": "Abnormal muscle fiber morphology", "3": "Abnormal biliary tract morphology", "4": "Variable expressivity", "5": "Wide anterior fontanel", "6": "Increased bone mineral density", "7": "Poor suck", "8": "Phenotypic variability", "9": "Abnormality of pancreas physiology", "10": "Osteopenia", "11": "Abnormal activity of mitochondrial respiratory chain", "12": "Abnormality of the anterior fontanelle", "13": "Thin skin", "14": "Prenatal movement abnormality", "15": "Abnormality of humoral immunity", "16": "Pathologic fracture", "17": "Bruising susceptibility", "18": "Decreased activity of mitochondrial complex i", "19": "Ophthalmoparesis", "20": "Abnormality of fontanelles", "21": "Abnormality of the biliary system", "22": "Abnormal saccadic eye movements", "23": "Abnormal leukocyte physiology", "24": "Delayed cranial suture closure", "25": "Adipose tissue loss", "26": "Aplasia hypoplasia of the skin", "27": "Abnormal cellular phenotype", "28": "Open mouth", "29": "Malabsorption", "30": "Progeroid facial appearance", "31": "Microretrognathia", "32": "Functional abnormality of male internal genitalia", "33": "Congenital onset", "34": "Limb girdle muscle weakness", "35": "Abdominal pain", "36": "Death in infancy", "37": "Dental crowding", "38": "Prominent superficial blood vessels", "39": "Emg myopathic abnormalities", "40": "Increased susceptibility to fractures", "41": "Patent foramen ovale", "42": "Low set posteriorly rotated ears", "43": "Horizontal nystagmus", "44": "Decreased adipose tissue", "45": "Opisthotonus", "46": "Abnormal macular morphology", "47": "Enlarged thorax", "48": "Myoclonus", "49": "Subcutaneous hemorrhage"} |