- Dec 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
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www.sciencedirect.com www.sciencedirect.com
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Myoclonic jerks
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336
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encephalopathy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298
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Hyponatremia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902
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Cerebellar atrophy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
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Progressive microcephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253
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Developmental regression
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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- Sep 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result
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variant id lookup result
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- Aug 2019
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disproportionate stature
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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platyspondyly
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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