case_images: PMC5405358_01
case_images: Family history showing the consanguineous union between the proband's parents and grandparents, 23-year-old brother with intellectual disability and speech delay, and grandmother and grand aunts and uncles with hearing loss.
case_images: CRIG2017-9184265.001.jpg
case_images: PMC5405358_01_CRIG2017-9184265.001.jpg
case_images: fig1
case_images: Five siblings and his parents were healthy without evidence of hearing loss, dystonia, or intellectual disability (Figure 1).
case_images: PMC5405358_02