| {"0": "Neck muscle weakness", "1": "Prenatal maternal abnormality", "2": "Episodic vomiting", "3": "Abnormal atrioventricular conduction", "4": "Pedal edema", "5": "Ventricular tachycardia", "6": "Diffuse cerebral atrophy", "7": "Inverted nipples", "8": "Cns demyelination", "9": "Toe walking", "10": "Abnormality of skull ossification", "11": "Abnormal epidermal morphology", "12": "Intellectual disability progressive", "13": "Delusions", "14": "Acute lymphoblastic leukemia", "15": "Progressive gait ataxia", "16": "Emg chronic denervation signs", "17": "Hyporeflexia of lower limbs", "18": "Coxa valga", "19": "Anonychia", "20": "Erythema", "21": "Scaling skin", "22": "Recurrent viral infections", "23": "Neoplasm of the respiratory system", "24": "Distal lower limb amyotrophy", "25": "Laryngomalacia", "26": "Abnormalities of placenta or umbilical cord", "27": "Decreased number of peripheral myelinated nerve fibers", "28": "Young adult onset", "29": "Thin ribs", "30": "Cachexia", "31": "Decreased muscle mass", "32": "Decreased activity of mitochondrial complex iv", "33": "Abnormal lung lobation", "34": "Muscle stiffness", "35": "Hyperlipidemia", "36": "Lower limb amyotrophy", "37": "Abnormal circulating pyruvate family amino acid concentration", "38": "Arteriosclerosis", "39": "Papule", "40": "Abnormality of prothrombin", "41": "Flat occiput", "42": "Neonatal death", "43": "Steppage gait", "44": "Abnormal circulating proteinogenic amino acid derivative concentration", "45": "Tachycardia", "46": "Abnormal circulating cholesterol concentration", "47": "Wide anterior fontanel", "48": "Abnormal circulating fatty acid concentration", "49": "Wormian bones"} |