| {"0": "Amyotrophic lateral sclerosis", "1": "Increased serum pyruvate", "2": "Delayed cranial suture closure", "3": "Morphological abnormality of the pyramidal tract", "4": "Abnormal thoracic spine morphology", "5": "Fatigable weakness of bulbar muscles", "6": "Hypoketotic hypoglycemia", "7": "Abnormal circulating bilirubin concentration", "8": "Abnormal neuron morphology", "9": "Retinopathy", "10": "Xerostomia", "11": "Toe walking", "12": "Scotoma", "13": "Cutaneous photosensitivity", "14": "Abnormality of skull ossification", "15": "Generalized muscle weakness", "16": "Horizontal nystagmus", "17": "Impaired vibratory sensation", "18": "Abnormal circulating carbohydrate concentration", "19": "Optic neuropathy", "20": "Upper limb muscle weakness", "21": "Clonus", "22": "Sparse eyebrow", "23": "Elbow flexion contracture", "24": "Muscle stiffness", "25": "Bulbar signs", "26": "Motor neuron atrophy", "27": "Areflexia of lower limbs", "28": "Abnormal delivery", "29": "Proximal muscle weakness in upper limbs", "30": "Thin skin", "31": "Young adult onset", "32": "Insulin resistance", "33": "Optic disc pallor", "34": "Heterogeneous", "35": "Abnormality of the tarsal bones", "36": "Abnormality of the shoulder girdle musculature", "37": "Abnormal peripheral myelination", "38": "Wormian bones", "39": "Abnormal brainstem mri signal intensity", "40": "Meningioma", "41": "Impaired proprioception", "42": "Ventricular hypertrophy", "43": "Hypothermia", "44": "Muscle abnormality related to mitochondrial dysfunction", "45": "Abnormal circulating fatty acid concentration", "46": "Abnormality of the musculature of the lower limbs", "47": "Abnormal arterial physiology", "48": "Prematurely aged appearance", "49": "Neck muscle weakness"} |