Autosomal recessive mutations in the ALKBH8 gene cause intellectual developmental disorder-71 (MRT71; MIM: #618504), which is characterized by intellectual disability, global developmental delay, and epilepsy. Other variable clinical features include mild, variable facial dysmorphism, attention deficit hyperactivity disorder, and prune belly syndrome. However, it remains unclear at this point if prune belly syndrome was caused by ALKBH8 mutation or an alternative yet to be defined aetiology.
The prevalence of MRT71 cannot be ascertained with precision due to the limited number of cases identified to date.
MRT71 is inherited in an autosomal recessive manner.