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Table 1 The item-pool used for developing the MPS I phenotype severity scale

From: Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Items Rated to be of major importance by ≥50% of experts and as 'redundant' by none Not present in any of the 20 patient descriptions
Included in first written round:   
1. Age at onset of symptoms
2. Age at diagnosis   
3. Coarse facial features   
4. Abdominal hernia   
5. Inguinal hernia   
6. Developmental delay x  
7. Cognitive decline x x
8. Hydrocephalus x  
9. Cervical cord compression   x
10. Carpal tunnel syndrome   
11. Corneal clouding   
12. Elevated ocular pressure   x
13. Recurrent upper airway infections   
14. Recurrent otitis media   
15. Hearing disorders   
16. Pulmonary function   
17. Respiratory insufficiency   x
18. Obstructive sleep apnea syndrome x  
19. Valvular heart disease   
20. Cardiomyopathy   
21. Coronary artery disease   x
22. Hepatosplenomegaly   
23. Dysostosis multiplex   
24. Kyphosis x  
25. Hip dysplasia   
26. Toe walking   x
27. Joint stiffness/arthropathy/contractures x  
28. Growth retardation   
29. Premature death   x
30. Dermal melanocytosis   x
Proposed as additional items by the respondents:   
31. Positive family history   x
32. Hypertrichosis   
33. Macroglossia   
34. Hypotonia in infancy   
35. Protruded sternum   
36. Large head/frontal bossing   
37. Psychosis   x
38. Affected sibling   x
39. Early accelerated growth   x