Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature

Abstract

Key Clinical Message We report the first multigenerational family with NFIA‐related disorder from a missense variant. This case highlights the condition's phenotypic variability and the need for genetic testing when an initial diagnosis fails to explain all symptoms.

Keywords

• corpus callosum hypoplasia
• developmental delay
• macrocephaly
• NFIA‐related disorder
• nuclear factor I