26 individuals known to be affected as of May 2019. Most patients have at least lived through childhood mortality in infancy in a minority. Genetic (autosomal dominant mutation in HNRNPK)
Au–Kline syndrome (AKS), neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome, congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation īoy with Okamoto syndrome, showing the characteristic facial featuresĬongenital hydronephrosis, congenital heart defects, intellectual disability, dysautonomia, characteristic facial features
