CTNNB1 neurodevelopmental disorder with spastic diplegia and visual defects (OMIM 615,075, also known as NEDSDV or CTNNB1-NDD) is hallmarked by two main symptoms: cognitive impairment and exudative vitreoretinopathy. The gene discussed is CTNNB1; the disease is Familial exudative vitreoretinopathy.