183 Matching Annotations
  1. Jan 2020
    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
    35. 1
    36. 5
    37. 1
    38. 1
    39. 1
    40. 1
    41. muscular hypotonia
    42. muscular hypotonia
    43. muscular hypotonia
    44. muscular hypotonia
    45. muscular hypotonia
    46. muscular hypotonia
    47. seizures
    48. intellectual disability
    49. intellectual disability
    50. intellectual disability
    51. intellectual disability
    52. motor development
    53. motor development
    54. motor development
    55. motor development
    56. motor development
    57. motor development
    58. speech and language development
    59. speech and language development
    60. speech and language development
    61. speech and language development
    62. speech and language development
    63. developmental delay
    64. developmental delay
    65. developmental delay
    66. developmental delay
    67. developmental delay
    68. developmental delay
    69. TAOK1
    1. absent
    2. coiled
    3. short
    4. asthenozoospermia
    5. primary infertility
    6. DNAH17
  2. Dec 2019
    1. acute respiratory failure
    2. coagulopathy
    3. hyperammonemia
    4. 54.0 cm (99th percentile)
    5. 2 cm (in acute setting)
    6. hyperechoic cortex of both kidneys
    7. aortic insufficiency
    8. +
    9. +
    10. Platyspondyly
    11. +
    12. +
    13. +
    14. <3rd percentile
    15. Abnormal femoral head epiphysis
    16. Irregular vertebrae
    17. Hypoplastic vertebrae
    18. INR
    19. RALF
    20. Hepatomegaly
    21. Prothrombin time
    22. Total bilirubin
    23. AST
    24. ALT
    25. Glucose
    26. Splenomegaly
    27. <3rd percentile
    28. elevated methionine
    29. talipes equinovarus
    30. Neonatal jaundice
    31. RINT1
    1. failure to thrive
    2. hyperkinetic
    3. nystagmus
    4. right esotropia
    5. cortical edema
    6. downward gaze deviation
    7. tongue thrusting
    8. axial hypotonia
    9. appendicular spasticity
    10. could not verbalize
    11. lost voluntary mobility
    12. bilateral nonsynchronous spikes
    13. short non-provoked generalized tonic-clonic seizures
    14. intractable epilepsy
    15. ataxia
    16. status epilepticus
    17. Hyponatremia
    18. Cerebellar atrophy
    19. Myoclonic jerks
    20. Ataxia
    21. Hypotonia
    22. Progressive microcephaly
    23. Developmental regression
    24. Developmental delay
    25. Myoclonic jerks
    26. encephalopathy
    27. Hyponatremia
    28. Cerebellar atrophy
    29. Progressive microcephaly
    30. Developmental regression
    31. Developmental delay
    32. NUP214
  3. Oct 2019
  4. Aug 2019