| {"0": "Limb undergrowth", "1": "Congenital contracture", "2": "Coma", "3": "Hyperammonemia", "4": "Disproportionate short stature", "5": "Cytochrome c oxidase negative muscle fibers", "6": "Abnormality of fontanelles", "7": "Heterogeneous", "8": "Joint contracture of the hand", "9": "Tinnitus", "10": "Venous thrombosis", "11": "Abnormal epiphyseal ossification", "12": "Bifid uvula", "13": "Narrow palpebral fissure", "14": "Abnormal circulating nitrogen compound concentration", "15": "Telecanthus", "16": "Abnormal cardiac ventricular function", "17": "Myalgia", "18": "Hamartoma", "19": "Wormian bones", "20": "Abnormal uvula morphology", "21": "Absent facial hair", "22": "Round face", "23": "Platyspondyly", "24": "Coloboma", "25": "Cardiac arrest", "26": "Abnormal femoral neck head morphology", "27": "Dilated cardiomyopathy", "28": "Pigmentary retinopathy", "29": "Sensory axonal neuropathy", "30": "Impaired proprioception", "31": "Muscle abnormality related to mitochondrial dysfunction", "32": "Abnormal femoral neck morphology", "33": "Brain imaging abnormality", "34": "Horizontal nystagmus", "35": "Decreased activity of mitochondrial complex iv", "36": "Tented upper lip vermilion", "37": "Ventricular arrhythmia", "38": "Abnormal circulating lipid concentration", "39": "Thin ribs", "40": "Cardiac conduction abnormality", "41": "Kyphoscoliosis", "42": "Cardiomegaly", "43": "Abnormal epidermal morphology", "44": "Sarcoma", "45": "Sensorimotor neuropathy", "46": "Oral cavity bleeding", "47": "Erythema", "48": "Reduced subcutaneous adipose tissue", "49": "Abnormal arterial physiology"} |