Disrupted formation of the corpus callosum is the second most common central nervous system birth defect, occurring in approximately 1 in 3000 live births. The incidence of epilepsy in patients with agenesis of the corpus callosum (ACC) and its related syndromes ranges from 25% to 62%. Aicardi syndrome is a presumed X-linked syndrome, as it is seen only in females and Klinefelter syndrome (XXY) males. The ARX gene is a homeobox gene that has been shown to be crucial in forebrain, pancreatic, and testicular development. Andermann syndrome, also known as peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN). An autosomal dominant disorder, Mowat-Wilson, is caused by de novo mutations or deletions within the ZFHX1B (ZEB2) gene. Recent work in studying large cohorts of ACC individuals is providing insight into the diversity of causes which lead to ACC, which will provide important insight into mechanisms and outcomes.