Clinical features
Mutations in SMG9 cause a distinctive multiple congenital anomaly syndrome in humans. This syndrome is commonly characterized by neurologic and cardiac malformations, including ventricular septal defect, Dandy-Walker malformation, cerebellar vermis hypoplasia, and hypoplasia of the corpus callosum. The clinical features of the affected individuals may also include dysmorphism of the head, ears, eyes, nose, and mouth and skeletal deformities affecting the hands and feet.
Prevalence
The prevalence of SMG9-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
SMG9-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.