PAX6 and WAGR syndrome: 11p13-14 neurodevelopmental risk locus and deleted in some cases of WAGR syndrome (Online Mendelian Inheritance of Man (OMIM) #194072), a rare copy number variant disorder with its core features caused by haploinsufficiency for the Wilms tumor 1 (WT1) and Paired box 6 (PAX6) homoebox gene14.