Mutations in ARX have been found in a wide range of NDDs, affecting only male children and including severe cortical malformations such as X-linked Lissencephaly with agenesis of the corpus callosum and ambiguous genitalia (XLAG; MIM:300215); Agenesis of Corpus Callosum (ACC; MIM 300004; also known as Proud syndrome); severe pediatric epilepsy such as Developmental and Epileptic Encephalopathy 1 (DEE1; MIM:308350, also known as West syndrome); and mild cognition diseases including Partington syndrome (MIM 309510), autism, and non-syndromic intellectual disability [4,16,17,18,19,20]. Here, ARX is linked to corpus callosum agenesis-abnormal genitalia syndrome.