For example, biallelic LARP7 loss-of-function variants have been associated with Alazami syndrome characterized by cognitive disability (Najmabadi et al., 2011; Alazami et al., 2012) and MEPCE nonsense variants have been reported in a young boy with developmental delay and seizures accompanied with frontal white matter lesions identified by brain MRI (Schneeberger et al., 2019). Here, LARP7 is linked to Global developmental delay.