Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002136
- Aug 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0001249
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Monarch lookup result: https://monarchinitiative.org/phenotype/MP:0009674
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PPM1D
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002023
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008755
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007371
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007371
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002506
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100704
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002533
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003808
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000278
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000188
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011342
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EMC1
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004060
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
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EXTL3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943
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UBE2A
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- Jul 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417794/
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ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417796/
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Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?4060;
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
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EXTL3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ClinGen allele ID lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_001440.3%3Ac.953C%3ET
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EXTL3
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005306
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520
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EXTL3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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LINC00520
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- Jun 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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psychomotor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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UBE2A
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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chronic otitis media,
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000389
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chronic sinusitis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011109
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PIH1D3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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PIH1D3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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delayed motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002194
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hyperbilirubinemia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002904
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EXTL3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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heart murmur
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030148
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cyanosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000961
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pulmonary venous return
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010772
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truncus arteriosus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001660
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TMEM260
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bmcmedgenet.biomedcentral.com bmcmedgenet.biomedcentral.com
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arrhythmia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011675
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CACNA1C
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Synophris
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000664
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UBE2A
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ojrd.biomedcentral.com ojrd.biomedcentral.com
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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RBP3
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jem.rupress.org jem.rupress.org
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KLHL4
Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub
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KLHL4
Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub
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EXTL3
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- Jul 2017
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academic.oup.com academic.oup.com
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Autosomal recessive dilated cardiomyopathy https://www.omim.org/entry/604903
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www.sciencedirect.com www.sciencedirect.com
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Variants in MCAD gene found in Japanese patients
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