Gene List:
AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3, TAF6

References:
Boyle MI, et al. Cornelia de Lange syndrome. Clin Genet. 2015 Jul;88(1):1-12.

Levin et al. Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus. 1990;27:94–102.

Selicorni et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet. 2007;72:98–108.

Ockeloen CW, et al. Further delineation of the KBG syndrome caused by ANKRD11 aberrations. Eur J Hum Genet. 2015 Sep;23(9):1270.