- Jan 2020
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www.sciencedirect.com www.sciencedirect.com
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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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carinatum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
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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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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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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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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
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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
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
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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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mild mitral valve regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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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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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
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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
-
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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small patent ductal arteriosus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
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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
-
Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
-
Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
-
Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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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=CA414193319
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NKAP
-
NKAP
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
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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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Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
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Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
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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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atrial septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
-
Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
-
Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
-
Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
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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aortic dilatation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004942
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small patent ductus arteriosus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
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ventricular septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001629
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atrial septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
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mitral valve regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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aggressive behaviors
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
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attention deficit hyperactivity disorder
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
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central obesity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012743
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cryptorchidism
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000028
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Talipes equinovarus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762
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arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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excavatum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
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pectus carinatum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
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short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
-
midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
-
open-mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
-
long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
-
hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
-
intellectual disability (ID)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
Tags
- HP:0001263
- HP:0011800
- HP:0001290
- HP:0001653
- HP:0012385
- individual:2
- HP:0000322
- HP:0007018
- HP:0000767
- alleleLookup
- HP:0012743
- HP:0002650
- HP:0000098
- HP:0001533
- alleleLookup:individual
- pmid:undefined
- group:1
- allele:CA414193321
- hpoLookup
- HP:0000768
- hpoLookup:individual
- individual:3
- HP:0002616
- HP:0000194
- individual:5
- allele:CA414193319
- hpoLookup:group
- HP:0001249
- monarchLookup
- HP:0000028
- HP:0001629
- HP:0004942
- allele:CA414193300
- HP:0001762
- HP:0000718
- HP:0001388
- HP:0000276
- HP:0001631
- individual:1
- HP:0001634
- HP:0001643
- ClinGen
- HP:0001166
- individual:4
- gene:NKAP
- HP:0000400
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
- Dec 2019
-
www.sciencedirect.com www.sciencedirect.com
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NKAP
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NKAP
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www.sciencedirect.com www.sciencedirect.com