Considering the patient’s congenital deafness and goiter, we did genetic testing on the patient and her daughters and identified compound heterozygous variations, exon 5-6 deletion, and NM_000441: c.2027 (exon 17)T>A, p.L676Q, in the SLC26A4 gene by whole exome sequencing. The gene discussed is SLC26A4; the disease is goiter.