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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 2

      Case:Patient 2, Female, 5 y/o, Brazilian

      DiseaseAssertion:quadriplegic cerebral palsy with axial hypotonia and distal spasticity

      FamilyInfo: Non-consanguineous parents. Parents had normal karyotypes. Older sister was clinically normal.

      ParentalGenotype: Normal karyotypes for both parents.

      CasePresentingHPOs: HP:0002098, HP:0010959, HP:0008755, HP:0002090, HP:0032661, HP:0001274, HP:0011344, HP:0001249, HP:0001344, HP:0000748, HP:0034435, HP:0000486, HP:0000483, HP:0200136

      CaseHPOFreeText: Dilated superficial blood vessels seen on brain MRI.

      CaseNotHPO:N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Not asserted

      PreviouslyPublished: Not previously published

      GenotypingMethod:Mate-pair sequencing, Sanger sequencing, chromosome analysis

      Gene: FOXG1

      Variant: 46,XX,t(4;14)(q27;q13)dn

      HGVS: Not provided

      ClinVarID: 426095

      gnomAD: Not provided

      Gene:FOXG1, HGNC:3811 InheritancePattern:NoInheritanceAssertion DeNovo Mutation:translocation Zygosity:NoZygosityAssertion ClinVarID:426095 PreviousTesting:NoneReported GenotypingMethod:AllGenes ParentalTest:FullPhase ClinGen Rett/AS Annotate hgnc_imputed:ClinVar
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    ncbi.nlm.nih.gov/pmc/articles/PMC5839045/