To date, only 46 individuals with NEM8 have been reported worldwide and the identified variants in KLHL40 were scattered through all exons (Fig. 3) The main clinical manifestations include prenatal polyhydramnios (51.3%), fetal akinesia/hypokinesia (77.4%), multiple joint contractures (89.7%), spontaneous fractures (60.7%), respiratory failure (97.4%) and dysphagia (96.8%) during the neonatal period, with the average age of death being 5 months. Here, KLHL40 is linked to respiratory failure.