The KIF16B-associated neurodevelopmental disorder is characterized by global developmental delay (GDD), severe intellectual disability, hypotonia, microcephaly, and facial dysmorphism. 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