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Term information

  • Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity.
  • 2018-06-29T19:29:48Z
  • A monogenic disease that has material basis in mutation in the FOXG1 gene.
excluded subClassOf
has exact synonym
  • inherited genetic disease caused by mutation in FOXG1
  • FOXG1 disorder
  • FOXG1 inherited genetic disease
  • MONDO:0100040