PhenomeGene — Human Disease Gene Website SeriesARHGEF9

Clinical Characteristics

Developmental Delay (DD) (>90%)
Intellectual Disability (ID, ranging from mild (10%) to severe (~60%))
High incidence of seizures or epilepsy (~85%), with risk of epilepsy related to the severity of ID
Abnormal baseline EEG (low frequency spectral wavelengths delta and theta)
Sleep abnormalities
Varying presentation of behavioral features:
•    Autism like features
•    Anxiety
•    Hyperactivity