DeSanto-Shinawi syndrome

DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping deletions encompassing 10p11.23 in the specific features of this disease. And it has been suggested that WAC loss-of-function mutations are responsible for most of those phenotypic features.