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

<div>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.</div>

Case Reports in Genetics

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Figure 1

Figure 1: Pathogenic Variant in<i> ACTB</i>, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation 

Figure 1 | Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation 