Parents

The KIF16B-associated neurodevelopmental disorder is inherited in an autosomal recessive fashion. It 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 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.