CHD7 and CHARGE syndrome: De novo heterozygous mutations in the CHD7 gene are the leading causes of CHARGE syndrome, a complex neurodevelopmental disorder characterised by ocular Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia and Ear abnormalities, including mixed conductive/sensorineural hearing loss [29,30].