Table 3.

The 24 items that were proposed by the individual experts during the meeting

Items	Number of experts who proposed each item#
1. Global developmental delay/cognitive decline	18
2. Age at onset of symptoms <1.5 yr	13
3. Joint stiffness/arthropathy/contractures	11
4. Kyphosis/spinal involvement	11
5. Dysostosis multiplex	10
6. Cardiac involvement: valvular disease + cardiomyopathy	10
7. Large head/frontal bossing	8
8. Hydrocephalus	7
9. Age at diagnosis <1.5 yr	7
10. Coarse facial features	6
11. Growth retardation	4
12. Hepatosplenomegaly	4
13. Corneal clouding	4
14. Pulmonary function	4
15. Obstructive sleep apnea syndrome	3
16. Hearing problems	3
17. Cervical cord compression	2
18. Carpal tunnel syndrome	2
19. Abdominal hernia	1
20. Hip dysplasia	1
21. Recurrent otitis media	1
22. Macroglossia	1
23. Early surgical intervention	1
24. Affected sibling	1

# Certain items were individually mentioned by the experts but were used as a single item in the sum score (for example, developmental delay and cognitive decline were counted together); such items explain why the number of experts proposing a certain item occasionally exceeds the total number of experts