lissencephaly type 2 (Norman-Roberts type lissencephaly, lissencephaly with cerebellar hypoplasia)

Introduction

Associated with type 1 lissencephaly but has distinctive associated features

Genetics

• caused by mutations in the gene encoding reelin

Clinical manifestations

• low sloping forehead
• prominent nasal bridge
• bitemporal hollowing
• slightly prominent occiput
• widely set eyes
• severe postnatal growth deficiency
• hypertonia
• hyperreflexia
• seizures
• profound mental retardation

More general terms

• lissencephaly; agyria

Database

• OMIM: https://mirror.omim.org/entry/257320