HNRNPK and neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome: In summary, this study identifies the first Chinese patient with a novel <i>de novo</i> heterozygous <i>HNRNPK</i> gene variant that contributes to Au-Kline syndrome and expands current knowledge of the clinical spectrum of <i>HNRNPK</i> variants.