Clinical features
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.
Prevalence
The prevalence of SMG8-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
SMG8-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.