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The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We compiled 34 patients with a heterozygous (likely) pathogenic\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      variant. Qualitative assessment of cerebral anomalies was performed by standardized re\u2010analysis of all 34\n                      <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>\n                      data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult\n                      <jats:italic>Foxg1<\/jats:italic>\n                      +\/\u2212 mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner\n                      <jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>\n                      spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in\n                      <jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>\n                      1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of\n                      <jats:italic>Foxg1<\/jats:italic>\n                      heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for\n                      <jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>\n                      1 syndrome.\n                    <\/jats:p>\n                  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