Clinical features
Autosomal recessive mutations in the ARL14EP gene cause an autosomal recessive disorder characterized by global developmental delay, microcephaly, truncal obesity, and dysmorphic facies.
Prevalence
The prevalence of ARL14EP-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
ARL14EP-related disorders are inherited in an autosomal recessive manner.