In patient 8, WGS performed through the research study revealed a novel heterozygous variant, c.5051‐1G>A, in CHD7. Heterozygous mutations in CHD7 are associated with two defined syndromes, CHARGE syndrome (coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality) (OMIM #214800) and hypogonadotropic hypogonadism 5 with or without anosmia (OMIM #612370). The gene discussed is CHD7; the disease is congenital heart disease.