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GENATLAS PHENOTYPE
last update : 03-02-2010
Symbol XLAG
Location Xp22.13
Name lissencephaly, with ambiguous genitalia
Corresponding gene ARX
Other symbol(s) XLISG, LISX2
Main clinical features
  • lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, neonatal-onset epilepsy, hypothalamic dysfunction including deficient temperature regulation, with microcephaly and ambiguous genitalia
  • agenesis of corpus callosum
    • Genetic determination sex linked
    Related entries . including any cases of hydranencephaly and Proud syndrome (corpus callosum agenesis with abnormal genitalia, OMIM 300004)
    Function/system disorder congenital malformation
    mental retardation
    neurology
    sex-genitalia
    Type disease
    Gene product
    Name X-linked aristaless -related homeobox
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    deletion   unknown  
    Remark(s)