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    Regulatory variants of FOXG1 in the context of its topological domain organisation
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    1. Vibhor 09 Jul 2026
      Patient 3

      Case:Patient 3, Male, 1 y/o, Brazilian

      DiseaseAssertion: FOXG1 syndrome

      FamilyInfo: Non-consanguineous parents

      ParentalGenotype: No family testing mentioned.

      CasePresentingHPOs: HP:0000252, HP:0001252, HP:0000486

      CaseHPOFreeText: Developed microcephaly within 1 year. Developmental delay, unable to sit without assistance at 1 year old. Central Nervous System (CNS) MRI showed a volumetric reduction of the cerebral parenchyma, hypomyelination, and hypoplasia of corpus callosum mainly involving the anterior part and prominent lateral ventricles

      CaseNotHPO: HP:0030917

      CaseNotHPOFreeText: Normal length, weight, HC at birth. No retinal abnormalities.

      CasePreviousTesting: Not asserted.

      PreviouslyPublished: Not previously published.

      GenotypingMethod: Sanger sequencing, mate-pair sequencing

      Gene: FOXG1

      Variant: 46,XY,t(2;14)(q37;q11.2)dn

      HGVS: Not provided.

      ClinVarID:426094

      gnomAD:Not provided

      Gene:FOXG1, HGNC:3811 InheritancePattern:NoInheritanceAssertion DeNovo DiseaseEntity:FOXG1Disorder Mutation:translocation Zygosity:NoZygosityAssertion ClinVarID:426094 PreviousTesting:NoneReported GenotypingMethod:AllGenes ParentalTest:NoParentalTest ClinGen Rett/AS Annotate hgnc_imputed:ClinVar
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    ncbi.nlm.nih.gov/pmc/articles/PMC5839045/