Catalog

Classic lissencephaly

No MMS code

Link to WHO Definition

Classic lissencephaly – http://id.who.int/icd/entity/570001324

A condition caused by failure of the brain to correctly develop due to genetic mutation. This condition is characterised by defects in the normal circumvolutions of the cerebral cortex, high forehead, retrognathia, and developmental delays. This condition may also present with agyria, or pachygyria. This disease may be associated with mutations in PAFAH1B1 or DCX genes.