The severe disorders associated with KIF16B-pathogenesis constitute phenotypic features such as global developmental delay (GDD), severe intellectual disability, microcephaly, and seizures. Brain magnetic resonance imaging (MRI) showed diffuse white matter volume loss in the centrum semiovale, corona radiata regions with ex vacuo dilation of the lateral ventricles and diffuse thinning of the corpus callosum. Electroencephalography (EEG) showed continuous spike, polyspike, and wave epileptic discharges in the bilateral occipital head region, which were maximal in the right hemisphere. However, nerve conduction tests was normal.
KIF16B