- Jan 2020
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www.sciencedirect.com www.sciencedirect.com
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Feeding difficulty
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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Anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
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Short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
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Depressed nasal ridge
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
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Low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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Widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
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Thick eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
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Flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
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Prominent forehead
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
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dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
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Speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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Hyperphagia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
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Feeding difficulty
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
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narrow palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000189
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Anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
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Short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
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Depressed nasal ridge
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
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Depressed nasal bridg
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
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Low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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Posteriorly rotated ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000358
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Widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
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High, arched eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002553
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Thick eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
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Flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
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Prominent forehead
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
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dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
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Speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
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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=CA915940579
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA411033555
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/
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hyperphagia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
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anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
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short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
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low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
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thick eyebrows
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
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flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
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dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
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speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
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severe developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011344
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MN1
Tags
- variantLookup
- pmid:undefined
- HP:0002591
- HP:0000463
- HP:0000574
- ClinGen
- individual:2
- hpoLookup:individual
- HP:0005280
- HP:0000369
- HP:0011220
- group:1
- HP:0000316
- alleleLookup
- HP:0011968
- variant:72912
- HP:0000358
- individual:1
- allele:CA915940579
- hpoLookup:group
- HP:0011344
- allele:CA411033555
- alleleLookup:individual
- HP:0003196
- monarchLookup
- HP:0000189
- gene:MN1
- HP:0002553
- hpoLookup
- HP:0001290
- individual:3
- HP:0000457
- HP:0012368
- HP:0001263
- variantLookup:individual
- HP:0000268
- HP:0002167
Annotators
URL
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