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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-12-2009
Symbol PMGOH
Location 22q11
Name polymicrogyria with optic nerve hypoplasia
Corresponding gene TUBA8
Main clinical features
  • malformation of the cerebral cortex in which the usual gyral pattern is replaced by numerous small infoldings, separated by sulci, which fuse inferiorly, reflecting abnormal late neuronal migration and cortical organization
  • severe developmental delay, hypotonia, and seizures
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease