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GTR Home > Conditions/Phenotypes > Acrofacial dysostosis Cincinnati type

Acrofacial dysostosis Cincinnati type

Summary

The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023). [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A190, AFDCIN, HLD27, RPA1, RPA190, RPA194, RPO1-4, RPO14, POLR1A
    Summary: RNA polymerase I subunit A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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