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, MEPCE is linked to microcephalic primordial dwarfism, Alazami type.