EXOC2 biallelic mutations cause a neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH; OMIM #619306), wherein patient-derived fibroblasts EXOC2 expression was strongly suppressed leading to impaired vesicle fusion and exocytosis, and defective ARL13B localization in the cilium (Van Bergen et al., 2020). Here, EXOC2 is linked to neurodevelopmental disorder.