| {"0": "Contractures of the joints of the upper limbs", "1": "Limb undergrowth", "2": "Platyspondyly", "3": "Hammertoe", "4": "Amyotrophic lateral sclerosis", "5": "Abnormal form of the vertebral bodies", "6": "Increased susceptibility to fractures", "7": "Disproportionate short limb short stature", "8": "Disproportionate short stature", "9": "Distal muscle weakness", "10": "Abnormal metatarsal morphology", "11": "Foot dorsiflexor weakness", "12": "Abnormal glial cell morphology", "13": "Sarcoma", "14": "Frontotemporal dementia", "15": "Severe muscular hypotonia", "16": "Metatarsus adductus", "17": "Xerostomia", "18": "Dysphagia", "19": "Joint contracture of the hand", "20": "Motor neuron atrophy", "21": "Fatigable weakness of bulbar muscles", "22": "Abnormal neuron morphology", "23": "Osteolysis", "24": "Limb joint contracture", "25": "Fatigable weakness of swallowing muscles", "26": "Fatigable weakness of respiratory muscles", "27": "Facial asymmetry", "28": "Abnormal muscle fiber morphology", "29": "Upper limb muscle weakness", "30": "Abnormal vertebral morphology", "31": "Somatic mutation", "32": "Abnormal oral physiology", "33": "Abnormality of the metacarpal bones", "34": "Joint stiffness", "35": "Motor polyneuropathy", "36": "Rimmed vacuoles", "37": "Abnormality of long bone morphology", "38": "Contractures of the joints of the lower limbs", "39": "Distal amyotrophy", "40": "Abnormality of the ovary", "41": "Neoplasm by histology", "42": "Aganglionic megacolon", "43": "Mildly elevated creatine kinase", "44": "Abnormal cranial nerve physiology", "45": "Gastrostomy tube feeding in infancy", "46": "Prominent nose", "47": "Slowly progressive", "48": "Urinary incontinence", "49": "Abnormality of salivation"} |