In line with these considerations, a single individual with a clinical diagnosis of CHARGE syndrome, showing a normal chromosomal microarray and negative for intragenic CHD7 mutations, was identified to carry a missense variant in EP300, a gene implicated in Rubinstein–Taybi syndrome 2 (MIM 613684) and Menke–Hennekam syndrome (MIM 618333) [36,43,44]. Here, CHD7 is linked to CHARGE syndrome.