| {"0": "Very long chain fatty acid accumulation", "1": "Progressive sensorineural hearing impairment", "2": "Titubation", "3": "Pericardial effusion", "4": "Fluctuations in consciousness", "5": "Neuronal loss in central nervous system", "6": "Abnormal tissue metabolite concentration", "7": "Bulbar signs", "8": "Episodic vomiting", "9": "Progressive hearing impairment", "10": "Impaired glucose tolerance", "11": "Cns demyelination", "12": "Furrowed tongue", "13": "Broad palm", "14": "Achilles tendon contracture", "15": "Abnormality of the achilles tendon", "16": "Type 1 muscle fiber atrophy", "17": "Osteoarthritis", "18": "Decreased cervical spine flexion due to contractures of posterior cervical muscles", "19": "Shoulder girdle muscle weakness", "20": "Central apnea", "21": "Proximal upper limb amyotrophy", "22": "Abnormality of the musculature of the upper arm", "23": "Ragged red muscle fibers", "24": "Abnormal csf protein level", "25": "Young adult onset", "26": "Personality changes", "27": "Abnormal pericardium morphology", "28": "Pathologic fracture", "29": "Epiphyseal stippling", "30": "Delusions", "31": "Morphological abnormality of the pyramidal tract", "32": "Postaxial foot polydactyly", "33": "Abnormality of the 5th toe", "34": "Centrally nucleated skeletal muscle fibers", "35": "Areflexia of lower limbs", "36": "Abnormal atrioventricular conduction", "37": "Abnormal epiphyseal ossification", "38": "Loss of speech", "39": "Atrophy degeneration involving the spinal cord", "40": "Proximal amyotrophy", "41": "Abnormality of the musculature of the thigh", "42": "Muscle stiffness", "43": "Limb girdle muscular dystrophy", "44": "Bradycardia", "45": "Ureteral duplication", "46": "Increased connective tissue", "47": "Prenatal maternal abnormality", "48": "Decreased circulating cortisol level", "49": "Primary adrenal insufficiency"} |