To conclude, our report on a consanguineous Chinese family with MCPH2, characterized by severe microcephaly, intellectual disability, epilepsy, and unilateral cerebral dysplasia accompanied by limb deformities, broadens the phenotypic and mutational spectrum associated with WDR62. This case enhances our understanding of molecular pathogenesis of MCPH2 and introduces novel approaches for its treatment. Here, WDR62 is linked to epilepsy.