Intriguingly, three mutations, so far, have also been found to cause brain developmental abnormalities as well, including cerebellar hypoplasia and the cortical malformations polymicrogyria and lissencephaly [22, 28, 35], expanding the range of BICD2 mutant phenotypes beyond those associated with the neuromuscular system. This evidence concerns the gene BICD2 and Lissencephaly.