Case Reports in Genetics / 2017 / Article / Fig 1

Case Report

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Figure 1

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.