561 Matching Annotations
  1. Jan 2020
    1. Joint laxity
    2. Slender limbs
    3. carinatum
    4. Scoliosis
    5. Tall stature
    6. large ears
    7. Midface hypoplasia
    8. Open mouth appearance
    9. Long face
    10. aggressive behavior
    11. intellectual disability
    12. Developmental delay
    13. Arachnodactyly
    14. Joint laxity
    15. Slender limbs
    16. Scoliosis
    17. Tall stature
    18. aortic root dilatation
    19. mitral regurgitation
    20. mitral valve prolapse
    21. large ears
    22. Midface hypoplasia
    23. Open mouth appearance
    24. Short philtrum
    25. Long face
    26. Hypotonia
    27. aggressive behavior
    28. intellectual disability
    29. Developmental delay
    30. Arachnodactyly
    31. Camptodactyly
    32. Joint laxity
    33. Slender limbs
    34. Scoliosis
    35. Tall stature
    36. mild mitral valve regurgitation
    37. Midface hypoplasia
    38. Open mouth appearance
    39. Short philtrum
    40. Long face
    41. Hypotonia
    42. intellectual disability
    43. Developmental delay
    44. Arachnodactyly
    45. Joint laxity
    46. Slender limbs
    47. Scoliosis
    48. Tall stature
    49. small patent ductal arteriosus
    50. large ears
    51. Midface hypoplasia
    52. Open mouth appearance
    53. Short philtrum
    54. Long face
    55. Hypotonia
    56. intellectual disability
    57. Developmental delay
    58. NKAP
    59. NKAP
    60. Arachnodactyly
    61. Camptodactyly
    62. Joint laxity
    63. Slender limbs
    64. Pectus
    65. Pectus
    66. Scoliosis
    67. Tall stature
    68. atrial septal defect
    69. large ears
    70. Open mouth appearance
    71. Short philtrum
    72. Long face
    73. Hypotonia
    74. intellectual disability
    75. Developmental delay
    76. aortic dilatation
    77. small patent ductus arteriosus
    78. ventricular septal defect
    79. atrial septal defect
    80. mitral valve regurgitation
    81. aggressive behaviors
    82. attention deficit hyperactivity disorder
    83. central obesity
    84. cryptorchidism
    85. Talipes equinovarus
    86. arachnodactyly
    87. scoliosis
    88. excavatum
    89. pectus carinatum
    90. short philtrum
    91. large ears
    92. midface hypoplasia
    93. open-mouth appearance
    94. long face
    95. hypotonia
    96. tall stature
    97. intellectual disability (ID)
    98. developmental delay
    1. Feeding difficulty
    2. Hypotonia
    3. Anteverted nares
    4. Short nose
    5. Depressed nasal ridge
    6. Low-set ears
    7. Widely spaced eyes
    8. Thick eyebrow
    9. Flat face
    10. Prominent forehead
    11. dolichocephaly
    12. Speech impairment
    13. Developmental delay
    14. Hyperphagia
    15. Feeding difficulty
    16. narrow palate
    17. Anteverted nares
    18. Short nose
    19. Depressed nasal ridge
    20. Depressed nasal bridg
    21. Low-set ears
    22. Posteriorly rotated ears
    23. Widely spaced eyes
    24. High, arched eyebrow
    25. Thick eyebrow
    26. Flat face
    27. Prominent forehead
    28. dolichocephaly
    29. Speech impairment
    30. Developmental delay
    31. hyperphagia
    32. anteverted nares
    33. short nose
    34. low-set ears
    35. widely spaced eyes
    36. thick eyebrows
    37. flat face
    38. dolichocephaly
    39. speech impairment
    40. severe developmental delay
    41. MN1
    1. HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth

      PMID: 26160855

      Gene: HACD1

      Disease: Congenital Myopathy

    1. down-slanting eyelid
    2. short proximal extremities
    3. 3
    4. 3
    5. 8
    6. 5
    7. 8
    8. 5
    9. 4
    10. 6
    11. 8
    12. 5
    13. 3
    14. 6
    15. 5
    16. 3
    17. 3
    18. 3
    19. 2
    20. 6
    21. 8
    22. 6
    23. 5
    24. 3
    25. 6
    26. 2
    27. macrocephaly
    28. macrocephaly
    29. macrocephaly
    30. 7
    31. 2
    32. 5
    33. 1
    34. 5