Clinical Characteristics

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