| {"0": "Progressive sensorineural hearing impairment", "1": "Bulbar signs", "2": "Dysostosis multiplex", "3": "Postaxial foot polydactyly", "4": "Abnormality of the 5th toe", "5": "Cherry red spot of the macula", "6": "Abnormality of glycolipid metabolism", "7": "Ventricular preexcitation", "8": "Abnormal auditory evoked potentials", "9": "Hypocholesterolemia", "10": "Central scotoma", "11": "Progressive psychomotor deterioration", "12": "Increased connective tissue", "13": "Progressive hearing impairment", "14": "Nasogastric tube feeding in infancy", "15": "Retinal dysplasia", "16": "Abnormal csf protein level", "17": "Fluctuations in consciousness", "18": "Obstructive sleep apnea", "19": "Abnormal lumbar spine morphology", "20": "Shoulder girdle muscle weakness", "21": "Epiphyseal stippling", "22": "Underdeveloped supraorbital ridges", "23": "Abnormality of the achilles tendon", "24": "Rhizomelia", "25": "Achilles tendon contracture", "26": "Psychomotor deterioration", "27": "Abnormal sella turcica morphology", "28": "Inverted nipples", "29": "Ragged red muscle fibers", "30": "Subcutaneous nodule", "31": "Infantile axial hypotonia", "32": "Centrally nucleated skeletal muscle fibers", "33": "Abnormal epiphyseal ossification", "34": "Upper limb spasticity", "35": "Abnormality of the musculature of the thigh", "36": "Beaking of vertebral bodies", "37": "Thickened calvaria", "38": "Ankle clonus", "39": "Clumsiness", "40": "Thoracic kyphosis", "41": "Abnormal tissue metabolite concentration", "42": "Progressive spasticity", "43": "Anophthalmia", "44": "Hypolipoproteinemia", "45": "Scotoma", "46": "Orthostatic hypotension", "47": "Abnormal biliary tract morphology", "48": "Pseudobulbar signs", "49": "Abnormal lung lobation"} |