INTS11 and neurodevelopmental disorder: Novel missense INTS11 variants (c.721G > A, p.(Ala241Thr) and c.983T > A, p.(Leu328Gln)) were identified in individuals B-3 and B-4.<h4>Conclusions</h4>This study consolidates retinopathy as a feature of INTS11-associated neurodevelopmental disorders and provides a detailed characterization of a distinctive retinal phenotype.