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

Central nervous system

Abnormality of the nervous system

HP:0000707

Yes No Not investigated

Abnormality of brain morphology

HP:0012443

Yes No Not investigated

Delayed gross motor development

HP:0002194

Yes No Not investigated

Peripheral neuropathy

HP:0009830

Yes No Not investigated

Ataxia

HP:0001251

Yes No Not investigated

Dystonia

HP:0001332

Yes No Not investigated

Paraparesis

HP:0002385

Yes No Not investigated

Spasticity

HP:0001257

Yes No Not investigated

Choreoathetosis

HP:0001266

Yes No Not investigated

Gait disturbance

HP:0001288

Yes No Not investigated

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

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