PMC5405358_01
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.
CRIG2017-9184265.001.jpg
PMC5405358_01_CRIG2017-9184265.001.jpg
fig1
Five siblings and his parents were healthy without evidence of hearing loss, dystonia, or intellectual disability (Figure 1).
PMC5405358_02