Here, we present the case of a patient with MCD harboring a variant of <i>DYNC1H1</i> and review the relevant literature to explore genotype-phenotype relationships.<h4>Case presentation</h4>A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy. The gene discussed is DYNC1H1; the disease is infantile spasms.