Clinical features
A mutation in ANKLE2 gene can lead to a constellation of birth defects in humans termed autosomal recessive primary microcephaly-16 (MCPH16). These birth defects are variable in severity and are primarily characterized by smaller-than-normal head (microcephaly). Additional features that may be seen include neurological symptoms (such as seizures) as well as facial features that may be different from those common in the family.
Prevalence
Largely unknown due to limited data.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.