In this article, we describe a novel pathogenic variant of the TUBG1 gene (c.751A>T p.N251Y) identified through whole-exome sequencing (WES) in a Chinese patient who presented epilepsy, intellectual disability, speech impairment, and left external ear deformity; these findings may serve to improve diagnosis, management, and research on neurodevelopmental disorders caused by MCD. This evidence concerns the gene TUBG1 and neurodevelopmental disorder.