25 Matching Annotations
  1. Nov 2019
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
    25
    1. mjairath 19 Nov 2019
      hypertrophy of slow fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

      ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
    2. mjairath 19 Nov 2019
      fibre degeneration

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295

      ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:TNNT3
    3. mjairath 19 Nov 2019
      interstitial fibrosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206

      ClinGen hpoLookup monarchLookup HP:0002206 hpoLookup:individual individual:1 gene:TNNT3
    4. mjairath 19 Nov 2019
      hypertrophy of Type 1 (slow) fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

      ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
    5. mjairath 19 Nov 2019
      nemaline rods

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798

      ClinGen hpoLookup monarchLookup HP:0003798 hpoLookup:individual individual:1 gene:TNNT3
    6. mjairath 19 Nov 2019
      selective and marked atrophy of Type 2 (fast) fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554

      ClinGen hpoLookup monarchLookup HP:0003554 hpoLookup:individual individual:1 gene:TNNT3
    7. mjairath 19 Nov 2019
      nasogastric tube feedin

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288

      ClinGen hpoLookup monarchLookup HP:0040288 hpoLookup:individual individual:1 gene:TNNT3
    8. mjairath 19 Nov 2019
      bulbar weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283

      ClinGen hpoLookup monarchLookup HP:0001283 hpoLookup:individual individual:1 gene:TNNT3
    9. mjairath 19 Nov 2019
      non-invasive ventilation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887

      ClinGen hpoLookup monarchLookup HP%3A0004887 hpoLookup:individual individual:1 gene:TNNT3
    10. mjairath 19 Nov 2019
      respiratory muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747

      ClinGen hpoLookup monarchLookup HP:0002747 hpoLookup:individual individual:1 gene:TNNT3
    11. mjairath 19 Nov 2019
      thoracic scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943

      ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
    12. mjairath 19 Nov 2019
      thoracic scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943

      ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
    13. mjairath 19 Nov 2019
      bilateral hip dislocation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780

      ClinGen hpoLookup monarchLookup HP:0008780 hpoLookup:individual individual:1 gene:TNNT3
    14. mjairath 19 Nov 2019
      finger contractures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879

      ClinGen hpoLookup monarchLookup HP:0005879 hpoLookup:individual individual:1 gene:TNNT3
    15. mjairath 19 Nov 2019
      knee contractures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380

      ClinGen hpoLookup monarchLookup HP:0006380 hpoLookup:individual individual:1 gene:TNNT3
    16. mjairath 19 Nov 2019
      high arched palate

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218

      ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TNNT3
    17. mjairath 19 Nov 2019
      hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TNNT3
    18. mjairath 19 Nov 2019
      limb muscles

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028

      ClinGen hpoLookup monarchLookup HP:0009028 hpoLookup:individual individual:1 gene:TNNT3
    19. mjairath 19 Nov 2019
      weakness of facial

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319

      ClinGen hpoLookup monarchLookup HP:0030319 hpoLookup:individual individual:1 gene:TNNT3
    20. mjairath 19 Nov 2019
      rocker-bottom

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838

      ClinGen hpoLookup monarchLookup HP:0001838 hpoLookup:individual individual:1 gene:TNNT3
    21. mjairath 19 Nov 2019
      bilateral talipes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776

      ClinGen hpoLookup monarchLookup HP:0001776 hpoLookup:individual individual:1 gene:TNNT3
    22. mjairath 19 Nov 2019
      overlapping digits

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557

      ClinGen hpoLookup monarchLookup HP:0010557 hpoLookup:individual individual:1 gene:TNNT3
    23. mjairath 19 Nov 2019
      overlapping digits

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845

      ClinGen hpoLookup monarchLookup HP:0001845 hpoLookup:individual individual:1 gene:TNNT3
    24. mjairath 19 Nov 2019
      polyhydramnios

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561

      ClinGen hpoLookup monarchLookup HP:0001561 hpoLookup:individual individual:1 gene:TNNT3
    25. mjairath 19 Nov 2019
      TNNT3
      ClinGen gene:TNNT3 pmid:29266598
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    ncbi.nlm.nih.gov/pmc/articles/PMC5805634/