Kabuki syndrome is a rare genetic disorder, characterized by typical facial features, hypotonia, developmental delay and intellectual disabilities. We report here a Saudi female infant diagnosed as a case of Kabuki syndrome clinically and confirmed by molecular genetic testing. She was admitted at birth to neonatal ICU due to hydrocephalus and meningomyelocele and found to have Chiari malformation type II on radiological evaluation of the brain. Whole exome sequencing (WES) was sent for her and showed pathogenic variant in KDM6A which confirm the diagnosis of Kabuki syndrome
