It is possible that GLRA4 is dysregulated in patients 1 and 3 due to a position effect, in case their centromeric breakpoints do not affect GLRA4. Our patient DGDP084 without the deletion of PLP1 displays clinical features including intellectual disability, speech delay, and craniofacial anomalies which are also present in the patient of Torisu as a result of PLP1 deletion (Table 1). Here, GLRA4 is linked to Intellectual disability.