Clinical Characteristics
• intellectual disability
• global developmental delay
• autism spectrum disorder
• stereotypic behaviors
• repetitive hand-clapping behaviors
• microcephaly
• epilepsy
• attention-deficit/ hyperactivity disorder
• absence of expressive language
• spasticity and dystonia
• brain imaging abnormalities (decreased volume of cortex, cerebellum and corpus callosum)
• brain white matter hyperintensity
• dysmorphic facial features (bitemporal narrowing, wide nasal root and bridge..)
• obesity
