Heterozygous mutations of ANKRD11 have been identified in individuals with KBG syndrome, which is named after the initials of the last names of the first three families identified with the condition and is characterized by short stature, macrodontia of permanent upper central incisors, facial dysmorphism, learning difficulties, and neurobehavioral problems; it is also associated less frequently with seizures, cardiac abnormalities, hearing loss, feeding difficulties, and autistic features (Low et al., 2016). Here, ANKRD11 is linked to KBG syndrome.