A mutation in EXOC2, LOC126859547 (exocyst complex component 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia