- Jan 2020
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www.sciencedirect.com www.sciencedirect.com
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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aortic root dilatation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616
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mitral regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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mitral valve prolapse
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
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Midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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aggressive behavior
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
Tags
- HP:0000400
- gene:NKAP
- ClinGen
- hpoLookup:individual
- HP:0000322
- HP:0002650
- HP:0001263
- HP:0001388
- hpoLookup
- HP:0001653
- alleleLookup:individual
- monarchLookup
- individual:4
- HP:0000276
- HP:0011800
- HP:0000098
- HP:0000194
- HP:0001166
- HP:0001249
- HP:0001290
- HP:0001533
- HP:0002616
- allele:CA414193300
- HP:0000718
- alleleLookup
- HP:0001634
Annotators
URL
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reg.clinicalgenome.org reg.clinicalgenome.org
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
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www.sciencedirect.com www.sciencedirect.com
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4
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
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seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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www.sciencedirect.com www.sciencedirect.com
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
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- Dec 2019
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www.sciencedirect.com www.sciencedirect.com
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failure to thrive
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508
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