UDNI tip2toe Questionnaire
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1. Overview
2. Individual
3. Photographs
4. Pedigree
5. Family history
6. Growth Chart
7. Radiology - imaging
8. Previous genetic investigations
9. Other Laboratory results
10. Parents summary
11. Clinical findings
12. Pregnancy
13. Delivery
14. Neonatal period complications
15. Growth at birth
16. Post-natal growth
17. Facial morphology
18. Eyes
19. Mouth/teeth
20. Nose
21. Ears
22. Central nervous system
23. Cognition
24. Behavioral abnormality
25. Speech
26. Seizures
27. Muscles
28. Skeleton
29. Head and neck
30. Trunk
31. Upper limbs
32. Hands, fingers, and thumbs
33. Lower limbs
34. Feet/toes
35. Airways
36. Heart/great vessels
37. Kidneys and urinary tract
38. Genitalia
39. Liver and spleen
40. Skin
41. Hair/nails
42. Endocrine/metabolic
43. Connective tissue
44. Immune system/blood
45. Gastrointestinal
46. Cancer/malignancy /benign tumor
47. Summary
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Previous genetic investigations
Karyotype
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Array
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FISH
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Targeted sequencing
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WES panels/trios
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WGS panels/trios
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Array results
FISH results
Targeted sequencing variants
WES panels/trios variants
WGS panels/trios variants
RNA-seq results
Methylation results
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