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GTR Home > Conditions/Phenotypes > Congenital heart defects, multiple types, 7

Congenital heart defects, multiple types, 7

Summary

Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHTD7, FLT-4, FLT41, LMPH1A, LMPHM1, PCL, VEGFR-3, VEGFR3, FLT4
    Summary: fms related receptor tyrosine kinase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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