SATB2 and otofaciocervical syndrome 1: As the result, we identified 45 genes in large genomic deletions and 27 in duplications, including several known causative genes for OFC, such as SATB2 and MEIS2. Our study enriches the reservoir of potential causative OFC genes for genetic studies and provides a disease link to many of these genes that are known to be involved in several signaling pathways.