Functional analyses supported the pathogenicity of 4 of 7 missense variants.<h4>Conclusion</h4>We provide evidence that pathogenic biallelic SLC4A10 variants can lead to neurodevelopmental disorders characterized by variable abnormalities of the central nervous system, including altered brain ventricles, thus resembling several features observed in knockout mice. Here, SLC4A10 is linked to neurodevelopmental disorder.