NKAP and epilepsy: All previously reported patients had mutations located in exons 8 and 9 of NKAP.<h4>Case presentation</h4>The proband, a 12-year-old Slavic male individual, presented with a Marfanoid habitus, tall stature, dolichostenomelia, scoliosis of the lumbar spine, moderate pectoral deformity, plano-valgus position of the feet, joint hypermobility, habitual dislocation of the right shoulder joint, arachnodactyly of the hands and feet, elongated face, muscle hypotonia, absence epilepsy, and borderline intelligence.