| {"0": "Optic disc pallor", "1": "Abnormal urine ph", "2": "Respiratory distress", "3": "Bulbar signs", "4": "Visual loss", "5": "Abnormal vascular physiology", "6": "Thick eyebrow", "7": "Action tremor", "8": "Abnormal muscle fiber morphology", "9": "Congenital malformation of the right heart", "10": "Ventricular arrhythmia", "11": "Spastic diplegia", "12": "Urinary incontinence", "13": "Abnormality of the thoracic cavity", "14": "Abnormality of the pituitary gland", "15": "Muscle abnormality related to mitochondrial dysfunction", "16": "Impairment of activities of daily living", "17": "Increased csf lactate", "18": "Abnormal middle phalanx morphology of the hand", "19": "Hypermetropia", "20": "Clonus", "21": "Joint stiffness", "22": "Retinopathy", "23": "Long eyelashes", "24": "Morphological abnormality of the pyramidal tract", "25": "Abnormal glial cell morphology", "26": "Mitochondrial myopathy", "27": "Abnormal circulating fatty acid concentration", "28": "Abnormal csf metabolite level", "29": "Hepatic failure", "30": "Lower limb spasticity", "31": "Incomplete penetrance", "32": "Morphological abnormality of the corticospinal tract", "33": "Facial hypertrichosis", "34": "Deep palmar crease", "35": "Abnormal oral physiology", "36": "Contractures of the joints of the upper limbs", "37": "Atrophy degeneration involving the corticospinal tracts", "38": "Blepharophimosis", "39": "Abnormality of the hypothalamus pituitary axis", "40": "Developmental cataract", "41": "Abnormal circulating carbohydrate concentration", "42": "Joint laxity", "43": "Somatic mutation", "44": "Impaired proprioception", "45": "Generalized myoclonic seizure", "46": "Acne", "47": "Abnormal retinal vascular morphology", "48": "Increased serum pyruvate", "49": "Photophobia"} |