As already linked with NEDSDV (MIM# 615075) and exudative vitreoretinopathy 7 (MIM# 617572), clinical features such as developmental delay, intellectual disability, spastic diplegia, and ocular problems have been well established in CTNNB1-related neurodevelopmental disorder (1, 3–8). This evidence concerns the gene CTNNB1 and exudative vitreoretinopathy.