Recently, de novo pathogenic variations in the non‐ATPase subunit PSMD12 (Rpn5) of the 19S regulator lid of the 26S complex have been reported in six patients with neurodevelopmental disorders including mainly intellectual disability (ID), congenital malformations, ophthalmic anomalies (no cataracts), feeding difficulties, deafness (unspecified type for two patients/6) and subtle facial features (Küry et al, 2017). Here, PSMD12 is linked to neurodevelopmental disorder.