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TABLE 1

Demographics and Clinical Information

PatientAge at Onset of Symptoms, yAge at Correct Diagnosis, ySymptoms at OnsetOther Symptoms
10 Hip dysplasia; femoral head avascular necrosis Heart valves thickness; dysostosis multiplex; corneal opacity hip dysplasia 
12 Joint pain; corneal opacity Carpal tunnel syndrome; dysostosis multiplex 
37 Short stature; joint stiffness Corneal opacity; hip dysplasia 
42 Short stature; joint stiffness Corneal opacity; severe hip dysplasia; severe heart disease 
PatientAge at Onset of Symptoms, yAge at Correct Diagnosis, ySymptoms at OnsetOther Symptoms
10 Hip dysplasia; femoral head avascular necrosis Heart valves thickness; dysostosis multiplex; corneal opacity hip dysplasia 
12 Joint pain; corneal opacity Carpal tunnel syndrome; dysostosis multiplex 
37 Short stature; joint stiffness Corneal opacity; hip dysplasia 
42 Short stature; joint stiffness Corneal opacity; severe hip dysplasia; severe heart disease 
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