55 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    15
    1. 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
    2. 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
    3. 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
    4. 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
    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:2 gene:NKAP
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. 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
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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
    14
    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

      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
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    sciencedirect.com/science/article/pii/S000292971930432X
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0960896613009826
    1
    1. may_flowers 15 Jan 2020
      axial muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327

      ClinGen hpoLookup monarchLookup HP:0003327 hpoLookup:individual individual:2 gene:SGCG
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    sciencedirect.com/science/article/pii/S0960896613009826
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    9
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661

      ClinGen alleleLookup allele:CA399193661 alleleLookup:individual individual:2 gene:TAOK1
    2. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280

      ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:2 gene:TAOK1
    3. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003

      ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:2 gene:TAOK1
    4. may_flowers 05 Jan 2020
      macrocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:2 gene:TAOK1
    5. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717

      ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:2 gene:TAOK1
    6. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
    7. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:2 gene:TAOK1
    8. may_flowers 05 Jan 2020
      speech and language development

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

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:2 gene:TAOK1
    9. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:TAOK1
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    sciencedirect.com/science/article/pii/S0002929719301910
  6. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    1
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:2 gene:DNAH17
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    sciencedirect.com/science/article/pii/S0002929719301636
  7. Dec 2019
  8. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    6
    1. may_flowers 20 Dec 2019
      54.0 cm (99th percentile)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517

      ClinGen hpoLookup monarchLookup HP:0003517 hpoLookup:individual individual:2 gene:RINT1
    2. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:2 gene:RINT1
    3. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:2 gene:RINT1
    4. may_flowers 20 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:2 gene:RINT1
    5. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/

      ClinGen variantLookup variant:692227 variantLookup:individual individual:2 gene:RINT1
    6. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/

      ClinGen variantLookup variant:692228 variantLookup:individual individual:2 gene:RINT1
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    sciencedirect.com/science/article/pii/S0002929719301983
  9. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    5
    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
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    sciencedirect.com/science/article/pii/S0002929719301892
  10. Oct 2019
  11. reg.clinicalgenome.org reg.clinicalgenome.org
    https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646
    1
    1. cthaxton 01 Oct 2019

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646

      ClinGen alleleLookup allele:CA346764646 alleleLookup:individual individual:2 gene:developmental delay
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  12. Sep 2019
  13. 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
    3
    1. cthaxton 27 Sep 2019

      allele id lookup result

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:2 gene:FBXO11
    2. 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
    3. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/