UDNI tip2toe Questionnaire

UDNI tip2toe Questionnaire Help

Connecting to API..

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

Muscles

Abnormality of the musculature

HP:0003011

Yes No Not investigated

Muscle weakness

HP:0001324

Yes No Not investigated

Abnormal muscle tone

HP:0003808

Yes No Not investigated

Hypertonia

HP:0001276

Yes No Not investigated

Hypotonia

HP:0001252

Yes No Not investigated

Flexion contracture

HP:0001371

Yes No Not investigated

Arthrogryposis multiplex congenita

HP:0002804

Yes No Not investigated

Muscular dystrophy

HP:0003560

Yes No Not investigated

EMG abnormality

HP:0003457

Yes No Not investigated

Abnormal muscle physiology

HP:0011804

Yes No Not investigated

Other. Describe in Clinical summary and/or add HPO terms here

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