YWHAE and lissencephaly spectrum disorders: Although it was suggested that deletions or point mutation of PAFAH1B1 are sufficient enough to cause lissencephaly [53], a most severe phenotype compromising facial dysmorphisms, growth restriction and cardiac defects, among others, are due to a contiguous deletion of a region, including at least the three genes PAFAH1B1, CRK and YWHAE [54].