This panel was developed and used by the Australian Genomics Brain Malformations flagship. It is maintained by VCGS.
Cobblestone lissencephaly is characterised by a nodular brain surface, ocular anomalies, and congenital muscular disorders. Cobblestone cortex results from overmigration of the neuroblasts and glial cells beyond the external glial limitations into the subarachnoid space.
Please also consider the Lissencephaly and Band Heterotopia panel and the broader Malformations of cortical development superpanel if features are not entirely typical.