For example, Au-Kline syndrome is a neurodevelopmental disorder caused by pathogenic variants in HNRNPK; in 11 of 22 individuals with an Au-Kline diagnosis, tested on the DNAm signature were found to be “intermediate” meaning that their DNAm at signature sites fell between levels that matched individuals carrying HNRNPK loss-of-function variants and levels in healthy controls or individuals with benign variants [46]. The gene discussed is HNRNPK; the disease is neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome.