176 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    108
    1. megan_mayers 22 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:5 gene:NKAP
    2. megan_mayers 22 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:5 gene:NKAP
    3. megan_mayers 22 Jan 2020
      carinatum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:5 gene:NKAP
    4. megan_mayers 22 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:5 gene:NKAP
    5. megan_mayers 22 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:5 gene:NKAP
    6. megan_mayers 22 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:5 gene:NKAP
    7. megan_mayers 22 Jan 2020
      Midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:5 gene:NKAP
    8. megan_mayers 22 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:5 gene:NKAP
    9. megan_mayers 22 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:5 gene:NKAP
    10. megan_mayers 22 Jan 2020
      aggressive behavior

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:5 gene:NKAP
    11. megan_mayers 22 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:5 gene:NKAP
    12. megan_mayers 22 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:5 gene:NKAP
    13. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300

      ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:5 gene:NKAP
    14. megan_mayers 22 Jan 2020
      Arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:4 gene:NKAP
    15. megan_mayers 22 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:4 gene:NKAP
    16. megan_mayers 22 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:4 gene:NKAP
    17. megan_mayers 22 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:4 gene:NKAP
    18. megan_mayers 22 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:4 gene:NKAP
    19. megan_mayers 22 Jan 2020
      aortic root dilatation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616

      ClinGen hpoLookup monarchLookup HP:0002616 hpoLookup:individual individual:4 gene:NKAP
    20. megan_mayers 22 Jan 2020
      mitral regurgitation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:4 gene:NKAP
    21. megan_mayers 22 Jan 2020
      mitral valve prolapse

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634

      ClinGen hpoLookup monarchLookup HP:0001634 hpoLookup:individual individual:4 gene:NKAP
    22. megan_mayers 22 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:4 gene:NKAP
    23. megan_mayers 22 Jan 2020
      Midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:4 gene:NKAP
    24. megan_mayers 22 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:4 gene:NKAP
    25. megan_mayers 22 Jan 2020
      Short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:4 gene:NKAP
    26. megan_mayers 22 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:4 gene:NKAP
    27. megan_mayers 22 Jan 2020
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:4 gene:NKAP
    28. megan_mayers 22 Jan 2020
      aggressive behavior

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:4 gene:NKAP
    29. megan_mayers 22 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:NKAP
    30. megan_mayers 22 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:NKAP
    31. megan_mayers 22 Jan 2020

      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
    32. megan_mayers 22 Jan 2020
      Arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:3 gene:NKAP
    33. megan_mayers 22 Jan 2020
      Camptodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385

      ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:3 gene:NKAP
    34. megan_mayers 22 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:3 gene:NKAP
    35. megan_mayers 22 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:3 gene:NKAP
    36. megan_mayers 22 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:3 gene:NKAP
    37. megan_mayers 22 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:3 gene:NKAP
    38. megan_mayers 22 Jan 2020
      mild mitral valve regurgitation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:3 gene:NKAP
    39. megan_mayers 22 Jan 2020
      Midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:3 gene:NKAP
    40. megan_mayers 22 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:3 gene:NKAP
    41. megan_mayers 22 Jan 2020
      Short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:NKAP
    42. megan_mayers 22 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:3 gene:NKAP
    43. megan_mayers 22 Jan 2020
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:3 gene:NKAP
    44. megan_mayers 22 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:NKAP
    45. megan_mayers 22 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:NKAP
    46. megan_mayers 22 Jan 2020

      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
    47. megan_mayers 22 Jan 2020
      Arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:2 gene:NKAP
    48. megan_mayers 22 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:2 gene:NKAP
    49. megan_mayers 22 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:2 gene:NKAP
    50. megan_mayers 22 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:2 gene:NKAP
    51. megan_mayers 22 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:2 gene:NKAP
    52. megan_mayers 22 Jan 2020
      small patent ductal arteriosus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643

      ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:individual individual:2 gene:NKAP
    53. megan_mayers 22 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:2 gene:NKAP
    54. megan_mayers 22 Jan 2020
      Midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:2 gene:NKAP
    55. megan_mayers 22 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:2 gene:NKAP
    56. megan_mayers 22 Jan 2020
      Short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:2 gene:NKAP
    57. megan_mayers 22 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:2 gene:NKAP
    58. megan_mayers 22 Jan 2020
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:NKAP
    59. megan_mayers 22 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:2 gene:NKAP
    60. megan_mayers 22 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:NKAP
    61. megan_mayers 22 Jan 2020

      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
    62. megan_mayers 22 Jan 2020
      NKAP
      ClinGen gene:NKAP pmid:undefined
    63. megan_mayers 15 Jan 2020
      NKAP
      ClinGen gene:NKAP pmid:undefined
    64. megan_mayers 14 Jan 2020

      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
    65. megan_mayers 14 Jan 2020
      Arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:1 gene:NKAP
    66. megan_mayers 14 Jan 2020
      Camptodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385

      ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:1 gene:NKAP
    67. megan_mayers 14 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:NKAP
    68. megan_mayers 14 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:1 gene:NKAP
    69. megan_mayers 14 Jan 2020
      Pectus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:1 gene:NKAP
    70. megan_mayers 14 Jan 2020
      Pectus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767

      ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:individual individual:1 gene:NKAP
    71. megan_mayers 14 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:1 gene:NKAP
    72. megan_mayers 14 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:1 gene:NKAP
    73. megan_mayers 14 Jan 2020
      atrial septal defect

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631

      ClinGen hpoLookup monarchLookup HP:0001631 hpoLookup:individual individual:1 gene:NKAP
    74. megan_mayers 14 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:1 gene:NKAP
    75. megan_mayers 14 Jan 2020
      Midface hypoplasia

      Subject 1 - NOT HPO

    76. megan_mayers 14 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:1 gene:NKAP
    77. megan_mayers 14 Jan 2020
      Short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:1 gene:NKAP
    78. megan_mayers 14 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:1 gene:NKAP
    79. megan_mayers 14 Jan 2020
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:NKAP
    80. megan_mayers 14 Jan 2020
      ADHD/aggressive behavio

      Subject 1 - Not HPOs

    81. megan_mayers 14 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:NKAP
    82. megan_mayers 14 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:NKAP
    83. megan_mayers 14 Jan 2020
      none of the subjects with NKAP mutations were known to have hematological or immunological manifestations.

      NOT HPOs

    84. megan_mayers 14 Jan 2020
      aortic dilatation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004942

      ClinGen hpoLookup monarchLookup HP:0004942 hpoLookup:group group:1 gene:NKAP
    85. megan_mayers 14 Jan 2020
      small patent ductus arteriosus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643

      ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:group group:1 gene:NKAP
    86. megan_mayers 14 Jan 2020
      ventricular septal defect

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001629

      ClinGen hpoLookup monarchLookup HP:0001629 hpoLookup:group group:1 gene:NKAP
    87. megan_mayers 14 Jan 2020
      atrial septal defect

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631

      ClinGen hpoLookup monarchLookup HP:0001631 hpoLookup:group group:1 gene:NKAP
    88. megan_mayers 14 Jan 2020
      mitral valve regurgitation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:group group:1 gene:NKAP
    89. megan_mayers 14 Jan 2020
      aggressive behaviors

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:group group:1 gene:NKAP
    90. megan_mayers 14 Jan 2020
      attention deficit hyperactivity disorder

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:group group:1 gene:NKAP
    91. megan_mayers 14 Jan 2020
      central obesity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012743

      ClinGen hpoLookup monarchLookup HP:0012743 hpoLookup:group group:1 gene:NKAP
    92. megan_mayers 14 Jan 2020
      cryptorchidism

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000028

      ClinGen hpoLookup monarchLookup HP:0000028 hpoLookup:group group:1 gene:NKAP
    93. megan_mayers 14 Jan 2020
      Talipes equinovarus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762

      ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:group group:1 gene:NKAP
    94. megan_mayers 14 Jan 2020
      arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:group group:1 gene:NKAP
    95. megan_mayers 14 Jan 2020
      scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:group group:1 gene:NKAP
    96. megan_mayers 14 Jan 2020
      excavatum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767

      ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:group group:1 gene:NKAP
    97. megan_mayers 14 Jan 2020
      pectus carinatum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:group group:1 gene:NKAP
    98. megan_mayers 14 Jan 2020
      short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:group group:1 gene:NKAP
    99. megan_mayers 14 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:group group:1 gene:NKAP
    100. megan_mayers 14 Jan 2020
      midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:group group:1 gene:NKAP
    101. megan_mayers 14 Jan 2020
      open-mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:group group:1 gene:NKAP
    102. megan_mayers 14 Jan 2020
      long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:group group:1 gene:NKAP
    103. megan_mayers 14 Jan 2020
      facial dysmorphisms

      HPO free text

    104. megan_mayers 14 Jan 2020
      hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:group group:1 gene:NKAP
    105. megan_mayers 14 Jan 2020
      Marfanoid habitus

      HPO free text

    106. megan_mayers 14 Jan 2020
      tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:group group:1 gene:NKAP
    107. megan_mayers 14 Jan 2020
      intellectual disability (ID)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:group group:1 gene:NKAP
    108. megan_mayers 14 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:NKAP
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    sciencedirect.com/science/article/pii/S0002929719303489
  3. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    44
    1. megan_mayers 17 Jan 2020
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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

      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

      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

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/

      ClinGen variantLookup variant:72912 variantLookup:individual individual:1 gene:MN1
    34. megan_mayers 15 Jan 2020
      hyperphagia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591

      ClinGen hpoLookup monarchLookup HP:0002591 hpoLookup:group group:1 gene:MN1
    35. megan_mayers 15 Jan 2020
      anteverted nares

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463

      ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:group group:1 gene:MN1
    36. megan_mayers 15 Jan 2020
      short nose

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196

      ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:group group:1 gene:MN1
    37. megan_mayers 15 Jan 2020
      low-set ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:group group:1 gene:MN1
    38. megan_mayers 15 Jan 2020
      widely spaced eyes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:group group:1 gene:MN1
    39. megan_mayers 15 Jan 2020
      thick eyebrows

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574

      ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:group group:1 gene:MN1
    40. megan_mayers 15 Jan 2020
      flat face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368

      ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:group group:1 gene:MN1
    41. megan_mayers 15 Jan 2020
      dolichocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268

      ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:group group:1 gene:MN1
    42. megan_mayers 15 Jan 2020
      speech impairment

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167

      ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:group group:1 gene:MN1
    43. megan_mayers 15 Jan 2020
      severe developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011344

      ClinGen hpoLookup monarchLookup HP:0011344 hpoLookup:group group:1 gene:MN1
    44. megan_mayers 15 Jan 2020
      MN1
      ClinGen gene:MN1 pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S000292971930432X
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X?via%3Dihub
    1
    1. megan_mayers 15 Jan 2020
      MN1
      ClinGen gene:MN1 pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S000292971930432X
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302411
    1
    1. megan_mayers 15 Jan 2020
      POLR2A
      ClinGen gene:POLR2A pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719302411
  6. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489?via%3Dihub
    1
    1. megan_mayers 14 Jan 2020
      NKAP
      ClinGen gene:NKAP pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719303489
  7. Dec 2019
  8. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302411
    4
    1. megan_mayers 23 Dec 2019
      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
      General hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:POLR2A
    3. megan_mayers 23 Dec 2019
      The cohort

      Group 1

    4. megan_mayers 23 Dec 2019
      POLR2A
      ClinGen gene:POLR2A pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719302411
  9. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489?via%3Dihub
    2
    1. megan_mayers 16 Dec 2019
      NKAP
      ClinGen gene:NKAP pmid:undefined
    2. megan_mayers 13 Dec 2019
      NKAP
      ClinGen gene:NKAP pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719303489
  10. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub
    2
    1. megan_mayers 05 Dec 2019
      Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

      Test

    2. megan_mayers 05 Dec 2019
      DDX6
      ClinGen gene:DDX6 pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719302733
  11. Nov 2019
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
    1
    1. megan_mayers 18 Nov 2019
      MYH7
      ClinGen gene:MYH7 pmid:27387980
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    ncbi.nlm.nih.gov/pmc/articles/PMC4936326/
  13. Aug 2019
  14. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    12
    1. megan_mayers 12 Aug 2019
      cervical malformations

      FreeText

      Families D and E

    2. megan_mayers 12 Aug 2019
      Lumbar gibbus

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:4 gene:EXTL3
    3. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:5 gene:EXTL3
    4. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:4 gene:EXTL3
    5. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:3 gene:EXTL3
    6. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:5 gene:EXTL3
    7. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:4 gene:EXTL3
    8. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:3 gene:EXTL3
    9. megan_mayers 12 Aug 2019
      Lumbar gibbus

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:3 gene:EXTL3
    10. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:1 gene:EXTL3
    11. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:1 gene:EXTL3
    12. megan_mayers 12 Aug 2019
      EXTL3
      ClinGen gene:EXTL3 pmid:28132690
    Visit annotations in context

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    URL

    cell.com/ajhg/fulltext/S0002-9297(17)30013-7