CHD7 and CHARGE syndrome: Notably, de novo mutations in CHD7 cause the CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retarded growth and development, genitourinary hypoplasia, and ear abnormalities, including deafness and vestibular disorders), which is characterized by a unique combination of organ anomalies (Basson and van Ravenswaaij‐Arts, 2015).