An extremely rare autosomal dominant syndrome described in two families to date and with characteristics of moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Caused by mutation in the EYA4 gene.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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PHIN Preferred Term Flag
Code Flag
3428347018
Sensorineural deafness with dilated cardiomyopathy syndrome