<h4>Background</h4>Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in <i>SLC18A2</i>, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines into synaptic vesicles and of serotonin into platelet dense granules.<h4>Case presentation</h4>The presented case is of a child, born of healthy consanguineous parents, who exhibited hypotonia, mental disability, epilepsy, uncontrolled movements, and gastrointestinal problems. The gene discussed is SLC18A2; the disease is neurodevelopmental disorder.