Clinical features
Mutations in EOGT cause a clinically recognizable autosomal-recessive disorder, Adams-Oliver syndrome-4 (AOS4), which is characterized by aplasia cutis congenita and terminal transverse limb defects. Various other abnormalities may be present in other organs (e.g. brain and heart).
Prevalence
The prevalence of EOGT-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
EOGT-related disorder is inherited in an autosomal recessive manner.