X-Linked Lissencephaly with Abnormal Genitalia (XLAG) is an uncommon condition with a poor prognosis.


Gene affected: aristaless-related homeobox gene (ARX)

Location: Xp22.13


Clinical features:

(1) X-linked inheritance (with males affected and maternal carriers)

(2) lissencephaly with microcephaly

(3) male genotype with ambiguous genitalia

(4) agenesis of the corpus callosum

(5) intractable epilepsy observed at birth or during infancy

(6) impaired psychomotor development

(7) variable malformations in other organs

(8) variable hypothalamic dysfunction


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