CLCN6 and Global developmental delay: Furthermore, a recent study from Polovitsksaya et al, identified a de novo missense gain‐of‐function mutation in CLCN6 that is associated with an early‐onset neurodegenerative disorder presenting with developmental delay, severe generalized hypotonia, respiratory insufficiency, neurogenic bladder, and cerebral atrophy (Polovitskaya et al., 2020).