| {"0": "Cerebral palsy", "1": "Neutropenia in presence of anti neutropil antibodies", "2": "Cortical dysplasia", "3": "Fetal onset", "4": "Chronic neutropenia", "5": "Broad eyebrow", "6": "Autoimmune thrombocytopenia", "7": "Skin rash", "8": "Abnormal circulating monocarboxylic acid cocentration", "9": "Sparse lateral eyebrow", "10": "Pulmonary artery dilatation", "11": "Embryonal renal neoplasm", "12": "Decreased activity of the pyruvate dehydrogenase complex", "13": "Hypoplasia of the pons", "14": "Focal t2 hyperintense basal ganglia lesion", "15": "Dilation of lateral ventricles", "16": "Fetal ultrasound soft marker", "17": "Recurrent viral infections", "18": "Frontal cortical atrophy", "19": "Thickened nuchal skin fold", "20": "Impaired tandem gait", "21": "Abnormal incisor morphology", "22": "Incisor macrodontia", "23": "Autoimmune antibody positivity", "24": "Abnormal b cell morphology", "25": "Periorbital fullness", "26": "Congenital nystagmus", "27": "Impaired t cell function", "28": "Myoglobinuria", "29": "Neoplasm of striated muscle", "30": "Abnormality of the calf musculature", "31": "Incomitant strabismus", "32": "Axonal loss", "33": "Abnormal lateral ventricle morphology", "34": "Receptive language delay", "35": "Abnormality of vitamin d metabolism", "36": "Macrodontia", "37": "Retinopathy", "38": "Hypotension", "39": "Low levels of vitamin d", "40": "Abnormal t cell subset distribution", "41": "Abnormality of t cell physiology", "42": "Progressive spastic paraplegia", "43": "Proximal amyotrophy", "44": "Difficulty climbing stairs", "45": "Colitis", "46": "Primary gonadal insufficiency", "47": "Rhabdomyosarcoma", "48": "Pancreatic adenocarcinoma", "49": "Autoimmune hemolytic anemia"} |