NKAP-related syndrome is characterized by developmental delay, learning disability, hypotonia, behavioural abnormalities such as ADHD, tall stature/Marfanoid habitus, joint contractures, scoliosis, and congenital heart disease or mitral valve regurgitation. Other clinical manifestations seen in individuals with NKAP-related syndrome include aortic dilation, cryptorchidism, hypospadias, and central obesity.
NKAP