| {"0": "Polymicrogyria", "1": "Limb joint contracture", "2": "Knee flexion contracture", "3": "Muscle stiffness", "4": "Wormian bones", "5": "Immunologic hypersensitivity", "6": "Increased serum pyruvate", "7": "Abdominal pain", "8": "Abnormality of cranial sutures", "9": "Abnormal circulating carbohydrate concentration", "10": "Autoimmunity", "11": "Splenomegaly", "12": "Abnormal paranasal sinus morphology", "13": "Horizontal nystagmus", "14": "Skin rash", "15": "Recurrent bacterial infections", "16": "Fibrous tissue neoplasm", "17": "Interictal eeg abnormality", "18": "External ear malformation", "19": "Contractures of the joints of the lower limbs", "20": "Abnormal b cell morphology", "21": "Phenotypic variability", "22": "Abnormality of the thyroid gland", "23": "Abnormal t cell morphology", "24": "Skin dimple", "25": "Bruising susceptibility", "26": "Arthrogryposis multiplex congenita", "27": "Dry skin", "28": "Intestinal polyp", "29": "Anorexia", "30": "Facial asymmetry", "31": "Vascular skin abnormality", "32": "Respiratory failure", "33": "Delayed cranial suture closure", "34": "Decreased activity of mitochondrial complex i", "35": "Abnormality of the lymph nodes", "36": "Abnormality of thyroid physiology", "37": "Low frustration tolerance", "38": "Abnormality of the upper respiratory tract", "39": "Abnormal bleeding", "40": "Dolichocephaly", "41": "Facial edema", "42": "Neoplasm of the rectum", "43": "Lymphopenia", "44": "Encephalopathy", "45": "Large basal ganglia", "46": "Gastrointestinal hemorrhage", "47": "Akinesia", "48": "Abnormal lymphocyte morphology", "49": "Subcutaneous hemorrhage"} |