lissencephaly X-linked type 1 (LISX1)

Introduction

classic lissencephaly

Pathology

• affected boys show an abnormally thick cortex with absent or severely reduced gyri

Genetics

• defects associated with defects in DCX
• t(X;2)(q22.3;p25.1)
• female patients display a less severe phenotype referred to as "doublecortex"

Clinical manifestations

• mental retardation
• seizures that are more severe in male patients
• feeding problems
• abnormal muscular tone
• severe to profound psychomotor retardation

More general terms

• lissencephaly; agyria

Additional terms

• double cortex/X-linked lissencephaly syndrome; X-linked subcortical laminar heterotopia/lissencephaly syndrome; subcortical band heterotopia X-linked

Database

• OMIM: https://mirror.omim.org/entry/300067