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GTR Home > Conditions/Phenotypes > Congenital contractures of the limbs and face, hypotonia, and developmental delay

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Summary

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1, NALCN
    Summary: sodium leak channel, non-selective

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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