Even larger deletions extending telomerically from the PAHFAH1B1/Lis1 gene are associated with Miller-Dieker Lissencephaly Syndrome (MDLS), which is characterised by the most severe grade of lissencephaly, craniofacial abnormalities, microcephaly and growth retardation (Fig. 1) [14, 86]. Here, PAFAH1B1 is linked to lissencephaly spectrum disorders.