| {"0": "Cough", "1": "Abnormal circulating proteinogenic amino acid concentration", "2": "Hyperammonemia", "3": "Abnormal circulating amino acid concentration", "4": "Abnormal circulating nitrogen compound concentration", "5": "Decreased activity of the pyruvate dehydrogenase complex", "6": "Metabolic acidosis", "7": "Progressive cerebellar ataxia", "8": "Hemolytic anemia", "9": "Progressive spastic paraplegia", "10": "Coma", "11": "Vestibular dysfunction", "12": "Increased csf lactate", "13": "Abnormal circulating bilirubin concentration", "14": "Abnormal peripheral action potential amplitude", "15": "Focal t2 hyperintense basal ganglia lesion", "16": "Abnormal circulating dicarboxylic acid concentration", "17": "Macrocytic anemia", "18": "Peripheral axonal degeneration", "19": "Abnormal urine carboxylic acid level", "20": "Abnormal circulating carboxylic acid concentration", "21": "Epidermal acanthosis", "22": "Leukodystrophy", "23": "Abnormal caudate nucleus morphology", "24": "Recurrent otitis media", "25": "Palpitations", "26": "Partial agenesis of the corpus callosum", "27": "Acute phase response", "28": "Abnormality of the common coagulation pathway", "29": "Camptodactyly of toe", "30": "Self mutilation", "31": "Normochromic anemia", "32": "Rod cone dystrophy", "33": "Abnormality of pain sensation", "34": "Lissencephaly", "35": "Anemia of inadequate production", "36": "Constriction of peripheral visual field", "37": "Impaired pain sensation", "38": "Hodgkin lymphoma", "39": "Aplasia hypoplasia of the cerebellar vermis", "40": "Flushing", "41": "Abnormal proportion of cd4 positive t cells", "42": "Psychomotor retardation", "43": "Ophthalmoparesis", "44": "Scrotal hypoplasia", "45": "Pheochromocytoma", "46": "Photophobia", "47": "Abnormal cerebellar vermis morphology", "48": "Abnormal calcium phosphate regulating hormone level", "49": "Abnormal pleura morphology"} |