Variation in LMAN2L gene can cause intellectual disability, seizures, lack of speech and aggressive behaviour.

The mode of inheritance is autosomal recessive. 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.