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caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood.

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Data Correlations | 2 studies

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Genes category icon Genes
Score Help
TBX1 100 100
DGCR 94 94
KIAA1279 87 87
CHRD 86 86
CRKL 86 86
EDNRA 85 85
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Biogroups category icon Biogroups
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p53-like transcription factor, DNA-… 100 100
chr22q11 93 93
Variant SH3 89 89
Pyk2 Pathway 88 88
ALK Pathway 88 88
Differentiation Pathway In PC12 Cel… 88 88
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Individual Studies

  • Mouse Phenotypes - Congenital heart disease

    Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data

  • OMIM - Congenital disorder

    Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data
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Associated Researchers

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Thought leaders and organizations working on research involving velo-cardio facial syndrome.

View All Author iconAuthors
  • B E Morrow
  • R K Pandita
  • Bernice E Morrow
  • Robert J Shprintzen
  • Stephan Eliez
View All Clinical trial sponsors icon Clinical Trials Sponsors
  • State University of New York - Upstate Medical University
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • Johns Hopkins University
View All Affiliations icon Organizations
  • Albert Einstein College of Medicine
  • State University of New York Upstate Medical University
  • Institute of Psychiatry
  • University of Leuven
  • University of Geneva School of Medicine

Clinical Trials | 3 trials

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Community

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