Among this case-series, only one patient with lissencephaly has performed next generation sequencing with evidence of a variant of uncertain significance identified in POMGNT2 and FAT4, respectively localized on chromosome 3p22.1 and 4q28.1, related to cobblestone lissencephaly, ventriculomegaly, cerebellar hypoplasia, ocular anomalies and Walker Warburg syndrome. Here, POMGNT2 is linked to lissencephaly spectrum disorders.