Deafness, Autosomal Recessive 76 (SYNE4)

Autosomal recessive deafness76 is caused by pathogenic variants in the gene SYNE4. Onset of symptoms can be from birth to early childhood. Symptoms are isolated, progressive high frequency hearing loss. Life expectancy is normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):