| {"0": "Abnormal tissue metabolite concentration", "1": "Cherry red spot of the macula", "2": "Abnormality of corneal stroma", "3": "Primary adrenal insufficiency", "4": "Delusions", "5": "Nasogastric tube feeding in infancy", "6": "Episodic vomiting", "7": "Young adult onset", "8": "Sclerocornea", "9": "Hypocholesterolemia", "10": "Eeg with spike wave complexes", "11": "Ketoacidosis", "12": "Central apnea", "13": "Cns demyelination", "14": "Profound global developmental delay", "15": "Arteriosclerosis", "16": "Neck muscle weakness", "17": "Hypoparathyroidism", "18": "Optic neuropathy", "19": "Abnormal circulating fatty acid concentration", "20": "Focal t2 hyperintense brainstem lesion", "21": "Paroxysmal involuntary eye movements", "22": "Ectrodactyly", "23": "Nephropathy", "24": "Abnormal mitochondria in muscle tissue", "25": "Postaxial hand polydactyly", "26": "Decreased activity of mitochondrial complex iv", "27": "Abnormal biliary tract morphology", "28": "Abnormal circulating cholesterol concentration", "29": "Hyperlipidemia", "30": "Decreased muscle mass", "31": "Abnormal lung lobation", "32": "Abnormal size of the clitoris", "33": "Muscle stiffness", "34": "Toe walking", "35": "Biliary tract abnormality", "36": "Abnormality of the clitoris", "37": "Abnormality of visual evoked potentials", "38": "Proximal tubulopathy", "39": "Epiphyseal stippling", "40": "Clumsiness", "41": "Duplication involving bones of the feet", "42": "Progressive neurologic deterioration", "43": "Abnormal circulating pyruvate family amino acid concentration", "44": "Left ventricular hypertrophy", "45": "Schizophrenia", "46": "Aganglionic megacolon", "47": "Abnormalities of placenta or umbilical cord", "48": "Posterior embryotoxon", "49": "Abnormality of alkaline phosphatase level"} |