| {"0": "Episodic vomiting", "1": "Prominent superficial blood vessels", "2": "Central scotoma", "3": "3 methylglutaconic aciduria", "4": "Bulbar signs", "5": "Scotoma", "6": "Nasogastric tube feeding in infancy", "7": "Abnormal circulating long chain fatty acid concentration", "8": "Brushfield spots", "9": "Focal t2 hyperintense brainstem lesion", "10": "Shallow orbits", "11": "Osteoarthritis", "12": "Abnormality of subcutaneous fat tissue", "13": "Frontotemporal dementia", "14": "Bulbar palsy", "15": "Optic neuropathy", "16": "Abnormal brainstem mri signal intensity", "17": "Abnormal mitochondria in muscle tissue", "18": "Paroxysmal involuntary eye movements", "19": "Ankle clonus", "20": "Underdeveloped supraorbital ridges", "21": "Ragged red muscle fibers", "22": "Limited hip movement", "23": "Papule", "24": "Emg chronic denervation signs", "25": "Decreased adipose tissue", "26": "Hypoventilation", "27": "Proximal tubulopathy", "28": "Polyneuropathy", "29": "Type 1 muscle fiber atrophy", "30": "Morphological abnormality of the pyramidal tract", "31": "Shoulder girdle muscle weakness", "32": "Postural tremor", "33": "Abnormality of skull ossification", "34": "Submucous cleft of soft and hard palate", "35": "Primary adrenal insufficiency", "36": "Abnormality of the achilles tendon", "37": "Achilles tendon contracture", "38": "External ophthalmoplegia", "39": "Posterior embryotoxon", "40": "Retinal vascular tortuosity", "41": "Abnormal epiphyseal ossification", "42": "Schizophrenia", "43": "Meningocele", "44": "Airway obstruction", "45": "Fetal distress", "46": "Dental crowding", "47": "Lower limb amyotrophy", "48": "Proximal muscle weakness in upper limbs", "49": "Atrophy degeneration involving the spinal cord"} |