Mutations in SMG8 cause a distinctive multiple congenital anomaly syndrome in humans. This syndrome is commonly characterized by global developmental delay, microcephaly, intellectual disability, facial dysmorphism, variable congenital heart diseases, eye malformations (e.g. strabismus, cataracts), and short stature.
The prevalence of SMG8-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
SMG8-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.