ADNP and congenital heart disease: According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classified as "pathogenic".<h4>Conclusion</h4>Our report indicated that c.568C > T (p.Gln190Ter) in <i>ADNP</i> gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of <i>ADNP</i> gene mutations associated with Helsmoortel-van der Aa syndrome.