265 Matching Annotations
  1. Dec 2019
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    12
    1. may_flowers 19 Dec 2019
      right esotropia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565

      ClinGen hpoLookup monarchLookup HP:0000565 hpoLookup:individual individual:2 gene:NUP214
    2. may_flowers 19 Dec 2019
      cortical edema

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181

      ClinGen hpoLookup monarchLookup HP:0002181 hpoLookup:individual individual:2 gene:NUP214
    3. may_flowers 19 Dec 2019
      downward gaze deviation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330

      ClinGen hpoLookup monarchLookup HP:0025330 hpoLookup:individual individual:2 gene:NUP214
    4. may_flowers 19 Dec 2019
      tongue thrusting

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703

      ClinGen hpoLookup monarchLookup HP:0100703 hpoLookup:individual individual:2 gene:NUP214
    5. may_flowers 19 Dec 2019
      axial hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936

      ClinGen hpoLookup monarchLookup HP:0008936 hpoLookup:individual individual:2 gene:NUP214
    6. may_flowers 16 Dec 2019
      appendicular spasticity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257

      ClinGen hpoLookup monarchLookup HP:0001257 hpoLookup:individual individual:1 gene:NUP214
    7. may_flowers 16 Dec 2019
      could not verbalize

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300

      ClinGen hpoLookup monarchLookup HP:0002300 hpoLookup:individual individual:1 gene:NUP214
    8. may_flowers 16 Dec 2019
      lost voluntary mobility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470

      ClinGen hpoLookup monarchLookup HP:0003470 hpoLookup:individual individual:1 gene:NUP214
    9. may_flowers 16 Dec 2019
      bilateral nonsynchronous spikes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353

      ClinGen hpoLookup monarchLookup HP:0002353 hpoLookup:individual individual:1 gene:NUP214
    10. may_flowers 16 Dec 2019
      short non-provoked generalized tonic-clonic seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069

      ClinGen hpoLookup monarchLookup HP:0002069 hpoLookup:individual individual:1 gene:NUP214
    11. may_flowers 16 Dec 2019
      intractable epilepsy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:1 gene:NUP214
    12. may_flowers 16 Dec 2019
      ataxia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251

      ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:individual individual:1 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
    2
    1. may_flowers 16 Dec 2019
      atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202

      ClinGen hpoLookup monarchLookup HP%3A0003202 hpoLookup:individual individual:1 gene:SGCA
    2. may_flowers 16 Dec 2019
      progressive muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323

      ClinGen hpoLookup monarchLookup HP:0003323 hpoLookup:individual individual:1 gene:SGCA
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    ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub
    3
    1. cthaxton 05 Dec 2019
      Small head circumference

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252

      ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:individual individual:1 gene:DDX6
    2. cthaxton 05 Dec 2019
      Speech delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:DDX6
    3. cthaxton 05 Dec 2019
      ID

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:DDX6
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    sciencedirect.com/science/article/pii/S0002929719302733
  5. Nov 2019
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
    24
    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
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5805634/
  7. Oct 2019
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
    4
    1. may_flowers 07 Oct 2019
      aminoaciduria

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355

      ClinGen hpoLookup monarchLookup HP:0003355 hpoLookup:individual individual:1 gene:SLC1A1
    2. may_flowers 07 Oct 2019
      aspartate level

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899

      ClinGen hpoLookup monarchLookup HP:0010899 hpoLookup:individual individual:1 gene:SLC1A1
    3. may_flowers 07 Oct 2019
      obsessive-compulsive trait

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770

      ClinGen hpoLookup monarchLookup HP:0008770 hpoLookup:individual individual:1 gene:SLC1A1
    4. may_flowers 07 Oct 2019
      kidney stones

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787

      ClinGen hpoLookup monarchLookup HP:0000787 hpoLookup:individual individual:1 gene:SLC1A1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
  9. Sep 2019
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    20
    1. cthaxton 11 Sep 2019
      Seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:2 gene:FBXO11
    2. cthaxton 11 Sep 2019
      22 mo

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031936

      ClinGen hpoLookup monarchLookup HP:0031936 hpoLookup:individual individual:2 gene:FBXO11
    3. cthaxton 11 Sep 2019
      constipation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002019

      ClinGen hpoLookup monarchLookup HP:0002019 hpoLookup:individual individual:1 gene:FBXO11
    4. cthaxton 11 Sep 2019
      hairy elbows

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004780

      ClinGen hpoLookup monarchLookup HP:0004780 hpoLookup:individual individual:1 gene:FBXO11
    5. cthaxton 11 Sep 2019
      strabismus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000486

      ClinGen hpoLookup monarchLookup HP:0000486 hpoLookup:individual individual:1 gene:FBXO11
    6. cthaxton 11 Sep 2019
      joint laxity

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

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:FBXO11
    7. cthaxton 11 Sep 2019
      fetal fingerpads

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001212

      ClinGen hpoLookup monarchLookup HP:0001212 hpoLookup:individual individual:1 gene:FBXO11
    8. cthaxton 11 Sep 2019
      mild hypertelorism

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

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:1 gene:FBXO11
    9. cthaxton 11 Sep 2019
      long eyelashes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000527

      ClinGen hpoLookup monarchLookup HP:0000527 hpoLookup:individual individual:1 gene:FBXO11
    10. cthaxton 11 Sep 2019
      mild exophthalmos

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000520

      ClinGen hpoLookup monarchLookup HP%3A0000520 hpoLookup:individual individual:1 gene:FBXO11
    11. cthaxton 11 Sep 2019
      broad forehead

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000337

      ClinGen hpoLookup monarchLookup HP:0000337 hpoLookup:individual individual:1 gene:FBXO11
    12. cthaxton 11 Sep 2019
      triangular face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325

      ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:1 gene:FBXO11
    13. cthaxton 11 Sep 2019
      aggressivity

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

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:1 gene:FBXO11
    14. cthaxton 11 Sep 2019
      no eye contact,

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000817

      ClinGen hpoLookup monarchLookup HP:0000817 hpoLookup:individual individual:1 gene:FBXO11
    15. cthaxton 11 Sep 2019
      social interaction

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012760

      ClinGen hpoLookup monarchLookup HP:0012760 hpoLookup:individual individual:1 gene:FBXO11
    16. cthaxton 11 Sep 2019
      autistic

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000729

      ClinGen hpoLookup monarchLookup HP:0000729 hpoLookup:individual individual:1 gene:FBXO11
    17. cthaxton 11 Sep 2019
      yes

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:FBXO11
    18. cthaxton 11 Sep 2019
      severe

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0011344

      ClinGen hpoLookup monarchLookup HP%3A0011344 hpoLookup:individual individual:1 gene:FBXO11
    19. cthaxton 11 Sep 2019
      no speech

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001344

      ClinGen hpoLookup monarchLookup HP:0001344 hpoLookup:individual individual:1 gene:FBXO11
    20. cthaxton 11 Sep 2019
      122 cm (−2.7)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000002

      ClinGen hpoLookup monarchLookup HP%3A0000002 hpoLookup:individual individual:1 gene:FBXO11
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/