Mutations in the ACTG1 gene have been mainly associated with autosomal dominant progressive sensorineural deafness 20/26 (DFNA20/26), and some have been linked to Baraitser-Winter syndrome, which is a rare autosomal recessive disorder characterized by developmental delay, facial dysmorphology, brain malformations, coloboma, and variable hearing loss [22-24]. This evidence concerns the gene ACTG1 and Baraitser-Winter syndrome.