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GTR Home > Conditions/Phenotypes > Congenital heart defects and ectodermal dysplasia

Congenital heart defects and ectodermal dysplasia

Summary

Congenital heart defects and ectodermal dysplasia (CHDED) is a rare disorder characterized by these cardinal features, with additional variable features of microcephaly, craniofacial or skeletal dysmorphism, feeding difficulties, or hypotonia (Sifrim et al., 2016). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHDED, PKC-MU, PKCM, PKD, PRKCM, PRKD1
    Summary: protein kinase D1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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