Hypothesis

4,719 Matching Annotations

Jan 2020
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719303489

65
1. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:4 gene:NKAP
2. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:4 gene:NKAP
3. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:4 gene:NKAP
4. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:4 gene:NKAP
5. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:4 gene:NKAP
6. megan_mayers 22 Jan 2020
  
  in Public
  
  aortic root dilatation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616
  
  ClinGen hpoLookup monarchLookup HP:0002616 hpoLookup:individual individual:4 gene:NKAP
7. megan_mayers 22 Jan 2020
  
  in Public
  
  mitral regurgitation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
  
  ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:4 gene:NKAP
8. megan_mayers 22 Jan 2020
  
  in Public
  
  mitral valve prolapse
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634
  
  ClinGen hpoLookup monarchLookup HP:0001634 hpoLookup:individual individual:4 gene:NKAP
9. megan_mayers 22 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:4 gene:NKAP
10. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:4 gene:NKAP
11. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:4 gene:NKAP
12. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:4 gene:NKAP
13. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:4 gene:NKAP
14. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:4 gene:NKAP
15. megan_mayers 22 Jan 2020
  
  in Public
  
  aggressive behavior
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
  
  ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:4 gene:NKAP
16. megan_mayers 22 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:NKAP
17. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:NKAP
18. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
  
  ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:4 gene:NKAP
19. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:3 gene:NKAP
20. megan_mayers 22 Jan 2020
  
  in Public
  
  Camptodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
  
  ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:3 gene:NKAP
21. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:3 gene:NKAP
22. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:3 gene:NKAP
23. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:3 gene:NKAP
24. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:3 gene:NKAP
25. megan_mayers 22 Jan 2020
  
  in Public
  
  mild mitral valve regurgitation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
  
  ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:3 gene:NKAP
26. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:3 gene:NKAP
27. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:3 gene:NKAP
28. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:NKAP
29. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:3 gene:NKAP
30. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:3 gene:NKAP
31. megan_mayers 22 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:NKAP
32. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:NKAP
33. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
  
  ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:3 gene:NKAP
34. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:2 gene:NKAP
35. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:2 gene:NKAP
36. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:2 gene:NKAP
37. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:2 gene:NKAP
38. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:2 gene:NKAP
39. megan_mayers 22 Jan 2020
  
  in Public
  
  small patent ductal arteriosus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
  
  ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:individual individual:2 gene:NKAP
40. megan_mayers 22 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:2 gene:NKAP
41. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:2 gene:NKAP
42. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:2 gene:NKAP
43. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:2 gene:NKAP
44. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:2 gene:NKAP
45. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:NKAP
46. megan_mayers 22 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:2 gene:NKAP
47. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:NKAP
48. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193319
  
  ClinGen alleleLookup allele:CA414193319 alleleLookup:individual individual:2 gene:NKAP
49. megan_mayers 14 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321
  
  ClinGen alleleLookup allele:CA414193321 alleleLookup:individual individual:1 gene:NKAP
50. megan_mayers 14 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:1 gene:NKAP
51. megan_mayers 14 Jan 2020
  
  in Public
  
  Camptodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
  
  ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:1 gene:NKAP
52. megan_mayers 14 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:NKAP
53. megan_mayers 14 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:1 gene:NKAP
54. megan_mayers 14 Jan 2020
  
  in Public
  
  Pectus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
  
  ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:1 gene:NKAP
55. megan_mayers 14 Jan 2020
  
  in Public
  
  Pectus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
  
  ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:individual individual:1 gene:NKAP
56. megan_mayers 14 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:1 gene:NKAP
57. megan_mayers 14 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:1 gene:NKAP
58. megan_mayers 14 Jan 2020
  
  in Public
  
  atrial septal defect
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
  
  ClinGen hpoLookup monarchLookup HP:0001631 hpoLookup:individual individual:1 gene:NKAP
59. megan_mayers 14 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:1 gene:NKAP
60. megan_mayers 14 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:1 gene:NKAP
61. megan_mayers 14 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:1 gene:NKAP
62. megan_mayers 14 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:1 gene:NKAP
63. megan_mayers 14 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:NKAP
64. megan_mayers 14 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:NKAP
65. megan_mayers 14 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:NKAP
Visit annotations in context

Tags

HP:0001653

HP:0001249

HP:0000098

HP:0000322

HP:0001643

alleleLookup:individual

HP:0001533

HP:0000767

allele:CA414193300

HP:0000718

individual:3

HP:0000400

HP:0001634

hpoLookup

HP:0001631

HP:0012385

ClinGen

HP:0001290

HP:0002616

alleleLookup

individual:1

HP:0000194

HP:0001388

HP:0001263

HP:0000276

allele:CA414193321

hpoLookup:individual

allele:CA414193319

HP:0000768

HP:0002650

individual:4

monarchLookup

individual:2

gene:NKAP

HP:0011800

HP:0001166

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719303489
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S000292971930432X

33
1. megan_mayers 17 Jan 2020
  
  in Public
  
  Feeding difficulty
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
  
  ClinGen hpoLookup monarchLookup HP:0011968 hpoLookup:individual individual:2 gene:MN1
2. megan_mayers 17 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:MN1
3. megan_mayers 17 Jan 2020
  
  in Public
  
  Anteverted nares
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
  
  ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:individual individual:2 gene:MN1
4. megan_mayers 17 Jan 2020
  
  in Public
  
  Short nose
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
  
  ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:individual individual:2 gene:MN1
5. megan_mayers 17 Jan 2020
  
  in Public
  
  Depressed nasal ridge
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
  
  ClinGen hpoLookup monarchLookup HP:0000457 hpoLookup:individual individual:2 gene:MN1
6. megan_mayers 17 Jan 2020
  
  in Public
  
  Low-set ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:2 gene:MN1
7. megan_mayers 17 Jan 2020
  
  in Public
  
  Widely spaced eyes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:2 gene:MN1
8. megan_mayers 17 Jan 2020
  
  in Public
  
  Thick eyebrow
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
  
  ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:individual individual:2 gene:MN1
9. megan_mayers 17 Jan 2020
  
  in Public
  
  Flat face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
  
  ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:individual individual:2 gene:MN1
10. megan_mayers 17 Jan 2020
  
  in Public
  
  Prominent forehead
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
  
  ClinGen hpoLookup monarchLookup HP:0011220 hpoLookup:individual individual:2 gene:MN1
11. megan_mayers 17 Jan 2020
  
  in Public
  
  dolichocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
  
  ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:individual individual:2 gene:MN1
12. megan_mayers 17 Jan 2020
  
  in Public
  
  Speech impairment
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
  
  ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:individual individual:2 gene:MN1
13. megan_mayers 17 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:MN1
14. megan_mayers 15 Jan 2020
  
  in Public
  
  Hyperphagia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
  
  ClinGen hpoLookup monarchLookup HP:0002591 hpoLookup:individual individual:1 gene:MN1
15. megan_mayers 15 Jan 2020
  
  in Public
  
  Feeding difficulty
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
  
  ClinGen hpoLookup monarchLookup HP:0011968 hpoLookup:individual individual:1 gene:MN1
16. megan_mayers 15 Jan 2020
  
  in Public
  
  narrow palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000189
  
  ClinGen hpoLookup monarchLookup HP:0000189 hpoLookup:individual individual:1 gene:MN1
17. megan_mayers 15 Jan 2020
  
  in Public
  
  Anteverted nares
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
  
  ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:individual individual:1 gene:MN1
18. megan_mayers 15 Jan 2020
  
  in Public
  
  Short nose
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
  
  ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:individual individual:1 gene:MN1
19. megan_mayers 15 Jan 2020
  
  in Public
  
  Depressed nasal ridge
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
  
  ClinGen hpoLookup monarchLookup HP:0000457 hpoLookup:individual individual:1 gene:MN1
20. megan_mayers 15 Jan 2020
  
  in Public
  
  Depressed nasal bridg
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
  
  ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:1 gene:MN1
21. megan_mayers 15 Jan 2020
  
  in Public
  
  Low-set ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:1 gene:MN1
22. megan_mayers 15 Jan 2020
  
  in Public
  
  Posteriorly rotated ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000358
  
  ClinGen hpoLookup monarchLookup HP:0000358 hpoLookup:individual individual:1 gene:MN1
23. megan_mayers 15 Jan 2020
  
  in Public
  
  Widely spaced eyes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:1 gene:MN1
24. megan_mayers 15 Jan 2020
  
  in Public
  
  High, arched eyebrow
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002553
  
  ClinGen hpoLookup monarchLookup HP:0002553 hpoLookup:individual individual:1 gene:MN1
25. megan_mayers 15 Jan 2020
  
  in Public
  
  Thick eyebrow
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
  
  ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:individual individual:1 gene:MN1
26. megan_mayers 15 Jan 2020
  
  in Public
  
  Flat face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
  
  ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:individual individual:1 gene:MN1
27. megan_mayers 15 Jan 2020
  
  in Public
  
  Prominent forehead
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
  
  ClinGen hpoLookup monarchLookup HP:0011220 hpoLookup:individual individual:1 gene:MN1
28. megan_mayers 15 Jan 2020
  
  in Public
  
  dolichocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
  
  ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:individual individual:1 gene:MN1
29. megan_mayers 15 Jan 2020
  
  in Public
  
  Speech impairment
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
  
  ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:individual individual:1 gene:MN1
30. megan_mayers 15 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:MN1
31. megan_mayers 15 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579
  
  ClinGen alleleLookup allele:CA915940579 alleleLookup:individual individual:3 gene:MN1
32. megan_mayers 15 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA411033555
  
  ClinGen alleleLookup allele:CA411033555 alleleLookup:individual individual:2 gene:MN1
33. megan_mayers 15 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/
  
  ClinGen variantLookup variant:72912 variantLookup:individual individual:1 gene:MN1
Visit annotations in context

Tags

ClinGen

HP:0001290

HP:0002167

HP:0000189

individual:1

alleleLookup

HP:0002553

alleleLookup:individual

variant:72912

HP:0000358

HP:0002591

gene:MN1

HP:0012368

HP:0001263

HP:0000463

HP:0000369

hpoLookup:individual

HP:0000574

HP:0011220

HP:0000316

allele:CA411033555

HP:0000268

monarchLookup

HP:0011968

HP:0005280

HP:0003196

individual:3

allele:CA915940579

variantLookup:individual

individual:2

hpoLookup

variantLookup

HP:0000457

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S000292971930432X
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0960896613009826

1
1. may_flowers 15 Jan 2020
  
  in Public
  
  axial muscle weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327
  
  ClinGen hpoLookup monarchLookup HP:0003327 hpoLookup:individual individual:2 gene:SGCG
Visit annotations in context

Tags

ClinGen

HP:0003327

gene:SGCG

hpoLookup:individual

individual:2

hpoLookup

monarchLookup

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0960896613009826
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0960896613009826?via%3Dihub

1
1. may_flowers 15 Jan 2020
  
  in Public
  
  Gowers’ sign
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391
  
  ClinGen hpoLookup monarchLookup HP:0003391 hpoLookup:individual individual:1 gene:SGCG
Visit annotations in context

Tags

ClinGen

gene:SGCG

hpoLookup:individual

hpoLookup

individual:1

HP:0003391

monarchLookup

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0960896613009826
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress

2
1. may_flowers 08 Jan 2020
  
  in Public
  
  Blood
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211
  
  ClinGen hpoLookup monarchLookup HP:0410211 hpoLookup:individual individual:1 gene:SGCG
2. may_flowers 08 Jan 2020
  
  in Public
  
  fiber degeneration
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
  
  ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:SGCG
Visit annotations in context

Tags

ClinGen

gene:SGCG

individual:1

HP:0410211

monarchLookup

hpoLookup

HP:0100295

hpoLookup:individual

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6545357/
reg.clinicalgenome.org reg.clinicalgenome.org

http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343

1
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549
  
  ClinGen alleleLookup allele:CA915940549 alleleLookup:individual individual:7 gene:TAOK1
Visit annotations in context

Tags

gene:TAOK1

ClinGen

allele:CA915940549

alleleLookup

individual:7

alleleLookup:individual

Annotators

may_flowers

URL

reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
reg.clinicalgenome.org reg.clinicalgenome.org

http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115

1
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
  
  ClinGen alleleLookup allele:CA398917343 alleleLookup:individual individual:8 gene:TAOK1
Visit annotations in context

Tags

gene:TAOK1

ClinGen

allele:CA398917343

individual:8

alleleLookup

alleleLookup:individual

Annotators

may_flowers

URL

reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719301910

73
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
  
  ClinGen alleleLookup allele:CA399189115 alleleLookup:individual individual:6 gene:TAOK1
2. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709
  
  ClinGen alleleLookup allele:CA399196709 alleleLookup:individual individual:5 gene:TAOK1
3. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
  
  ClinGen alleleLookup allele:CA398915284 alleleLookup:individual individual:3 gene:TAOK1
4. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661
  
  ClinGen alleleLookup allele:CA399193661 alleleLookup:individual individual:2 gene:TAOK1
5. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143
  
  ClinGen alleleLookup allele:CA399185143 alleleLookup:individual individual:1 gene:TAOK1
6. may_flowers 05 Jan 2020
  
  in Public
  
  down-slanting eyelid
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006
  
  ClinGen hpoLookup monarchLookup HP:0200006 hpoLookup:individual individual:6 gene:TAOK1
7. may_flowers 05 Jan 2020
  
  in Public
  
  short proximal extremities
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815
  
  ClinGen hpoLookup monarchLookup HP:0009815 hpoLookup:individual individual:6 gene:TAOK1
8. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
  
  ClinGen hpoLookup monarchLookup HP:0001947 hpoLookup:individual individual:3 gene:TAOK1
9. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
  
  ClinGen hpoLookup monarchLookup HP:0001942 hpoLookup:individual individual:3 gene:TAOK1
10. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
  
  ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:8 gene:TAOK1
11. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
  
  ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:5 gene:TAOK1
12. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
  
  ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:8 gene:TAOK1
13. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
  
  ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:5 gene:TAOK1
14. may_flowers 05 Jan 2020
  
  in Public
  
  4
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
  
  ClinGen hpoLookup monarchLookup HP:0002415 hpoLookup:individual individual:4 gene:TAOK1
15. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175
  
  ClinGen hpoLookup monarchLookup HP:0000175 hpoLookup:individual individual:6 gene:TAOK1
16. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:8 gene:TAOK1
17. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:5 gene:TAOK1
18. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:3 gene:TAOK1
19. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:6 gene:TAOK1
20. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:5 gene:TAOK1
21. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:3 gene:TAOK1
22. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
  
  ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:3 gene:TAOK1
23. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:TAOK1
24. may_flowers 05 Jan 2020
  
  in Public
  
  2
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
  
  ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:2 gene:TAOK1
25. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:6 gene:TAOK1
26. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:8 gene:TAOK1
27. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:6 gene:TAOK1
28. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:5 gene:TAOK1
29. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:3 gene:TAOK1
30. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
  
  ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:6 gene:TAOK1
31. may_flowers 05 Jan 2020
  
  in Public
  
  2
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
  
  ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:2 gene:TAOK1
32. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:6 gene:TAOK1
33. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:3 gene:TAOK1
34. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:2 gene:TAOK1
35. may_flowers 05 Jan 2020
  
  in Public
  
  7
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
  
  ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:7 gene:TAOK1
36. may_flowers 05 Jan 2020
  
  in Public
  
  2
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
  
  ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:2 gene:TAOK1
37. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
  
  ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:5 gene:TAOK1
38. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
  
  ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:1 gene:TAOK1
39. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
  
  ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:5 gene:TAOK1
40. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
  
  ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:1 gene:TAOK1
41. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265
  
  ClinGen hpoLookup monarchLookup HP:0001265 hpoLookup:individual individual:5 gene:TAOK1
42. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
  
  ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:1 gene:TAOK1
43. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540
  
  ClinGen hpoLookup monarchLookup HP:0000540 hpoLookup:individual individual:1 gene:TAOK1
44. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505
  
  ClinGen hpoLookup monarchLookup HP:0000505 hpoLookup:individual individual:1 gene:TAOK1
45. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407
  
  ClinGen hpoLookup monarchLookup HP:0000407 hpoLookup:individual individual:1 gene:TAOK1
46. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:8 gene:TAOK1
47. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:7 gene:TAOK1
48. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:6 gene:TAOK1
49. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
50. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
51. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TAOK1
52. may_flowers 05 Jan 2020
  
  in Public
  
  seizures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
  
  ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
53. may_flowers 05 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:7 gene:TAOK1
54. may_flowers 05 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:6 gene:TAOK1
55. may_flowers 05 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:TAOK1
56. may_flowers 05 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:TAOK1
57. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:8 gene:TAOK1
58. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:7 gene:TAOK1
59. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:6 gene:TAOK1
60. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:5 gene:TAOK1
61. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:2 gene:TAOK1
62. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:1 gene:TAOK1
63. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:8 gene:TAOK1
64. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:7 gene:TAOK1
65. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:6 gene:TAOK1
66. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:2 gene:TAOK1
67. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:TAOK1
68. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:7 gene:TAOK1
69. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:6 gene:TAOK1
70. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:TAOK1
71. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:TAOK1
72. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:TAOK1
73. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:TAOK1
Visit annotations in context

Tags

HP:0001249

HP:0000175

HP:0000322

HP:0001252

individual:6

alleleLookup:individual

individual:7

HP:0000736

HP:0002415

HP:0001382

HP:0000369

HP:0000348

HP:0000540

allele:CA399193661

allele:CA399189115

HP:0001763

HP:0005280

individual:3

allele:CA399185143

hpoLookup

individual:8

allele:CA399196709

individual:5

HP:0000505

ClinGen

HP:0001942

HP:0000407

alleleLookup

individual:1

HP:0001250

gene:TAOK1

HP:0000717

HP:0002705

HP:0001270

HP:0000750

HP:0001263

HP:0200006

hpoLookup:individual

HP:0009815

HP:0000256

HP:0000316

HP:0000325

HP:0001265

monarchLookup

individual:4

HP:0007018

allele:CA398915284

HP:0002003

HP:0000639

individual:2

HP:0001947

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301910
reg.clinicalgenome.org reg.clinicalgenome.org

http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284

1
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
  
  ClinGen alleleLookup allele:CA399193709 alleleLookup:individual individual:4 gene:TAOK1
Visit annotations in context

Tags

allele:CA399193709

ClinGen

gene:TAOK1

alleleLookup:individual

alleleLookup

individual:4

Annotators

may_flowers

URL

reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719301636

7
1. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
  
  ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
2. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
  
  ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
3. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
  
  ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
4. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
  
  ClinGen variantLookup variant:692266 variantLookup:individual individual:2 gene:DNAH17
5. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/
  
  ClinGen variantLookup variant:692268 variantLookup:individual individual:1 gene:DNAH17
6. may_flowers 05 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224
  
  ClinGen alleleLookup allele:CA8805224 alleleLookup:individual individual:1 gene:DNAH17
7. may_flowers 05 Jan 2020
  
  in Public
  
  primary infertility
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251
  
  ClinGen hpoLookup monarchLookup HP:0003251 hpoLookup:individual individual:1 gene:DNAH17
Visit annotations in context

Tags

variant:692269

ClinGen

alleleLookup

variant:692266

individual:1

alleleLookup:individual

gene:DNAH17

allele:CA8805224

hpoLookup:individual

HP:0003251

variant:692268

individual:4

monarchLookup

individual:3

individual:2

hpoLookup

variantLookup

variantLookup:individual

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301636
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

2
1. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
  
  ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
2. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
  
  ClinGen variantLookup variant:692266 variantLookup:individual individual:1 gene:DNAH17
Visit annotations in context

Tags

ClinGen

variant:692266

individual:1

individual:3

variantLookup

gene:DNAH17

variantLookup:individual

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/clinvar/variation/692266/
Dec 2019
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719302411

2
1. megan_mayers 23 Dec 2019
  
  in Public
  
  General hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:6 gene:POLR2A
2. megan_mayers 23 Dec 2019
  
  in Public
  
  General hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:POLR2A
Visit annotations in context

Tags

ClinGen

HP:0001290

gene:POLR2A

individual:1

individual:6

monarchLookup

hpoLookup

hpoLookup:individual

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302411
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719301983

11
1. may_flowers 20 Dec 2019
  
  in Public
  
  acute respiratory failure
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093
  
  ClinGen hpoLookup monarchLookup HP:0002093 hpoLookup:individual individual:1 gene:RINT1
2. may_flowers 20 Dec 2019
  
  in Public
  
  54.0 cm (99th percentile)
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517
  
  ClinGen hpoLookup monarchLookup HP:0003517 hpoLookup:individual individual:2 gene:RINT1
3. may_flowers 20 Dec 2019
  
  in Public
  
  2 cm (in acute setting)
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744
  
  ClinGen hpoLookup monarchLookup HP:0001744 hpoLookup:individual individual:3 gene:RINT1
4. may_flowers 20 Dec 2019
  
  in Public
  
  hyperechoic cortex of both kidneys
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719
  
  ClinGen hpoLookup monarchLookup HP:0004719 hpoLookup:individual individual:3 gene:RINT1
5. may_flowers 20 Dec 2019
  
  in Public
  
  aortic insufficiency
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659
  
  ClinGen hpoLookup monarchLookup HP:0001659 hpoLookup:individual individual:3 gene:RINT1
6. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
  
  ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:2 gene:RINT1
7. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
  
  ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:1 gene:RINT1
8. may_flowers 20 Dec 2019
  
  in Public
  
  Platyspondyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
  
  ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
9. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395
  
  ClinGen hpoLookup monarchLookup HP:0001395 hpoLookup:individual individual:1 gene:RINT1
10. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
  
  ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:2 gene:RINT1
11. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
  
  ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:1 gene:RINT1
Visit annotations in context

Tags

ClinGen

individual:1

HP:0003170

HP:0002093

gene:RINT1

HP:0001659

HP:0004719

hpoLookup:individual

HP:0001397

HP:0001395

HP:0000926

monarchLookup

HP:0001744

individual:3

individual:2

hpoLookup

HP:0003517

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301983