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GTR Home > Conditions/Phenotypes > Sinoatrial node dysfunction and deafness

Sinoatrial node dysfunction and deafness

Summary

Patients with sinoatrial node dysfunction and deafness have congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia (Baig et al., 2011). See Jervell and Lange-Nielsen syndrome (220400) for discussion of another deafness syndrome with impaired cardiac conduction. [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD, CACNA1D
    Summary: calcium voltage-gated channel subunit alpha1 D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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