This is consistent with previous studies pointing to the potential role of RBL2 dysfunction in the evolution of cancer52 and supports the premise that RBL2 plays dual roles in tumour suppression and neuronal differentiation and survival, thus providing further connection between tumorigenic processes and neurodevelopmental disorders.53 Overall, both the clinical and neuroradiological findings underscore substantial intrafamilial and interfamilial variations in phenotypic expressions and severity, revealing considerable complexity within and between families. Here, RBL2 is linked to neurodevelopmental disorder.