EXOC2 and Cerebellar hypoplasia: 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).