Details of Disease

General Information of Disease (ID: DISL3OYQ)

• Disease Name: FOXG1 disorder
• Synonyms: inherited genetic disease caused by mutation in FOXG1; FOXG1 inherited genetic disease; FOXG1 disorder
• Definition: A monogenic disease that has material basis in mutation in the FOXG1 gene.|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.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS51975: Pervasive developmental disorder
  DISYOKTG: Mendelian neurodevelopmental disorder
  DIS80GDF: Monogenic epilepsy
  DISL3OYQ: FOXG1 disorder

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXG1	OTAW57J4	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.