Affected individuals display complex phenotypes which impact cognition, motor function, and electroencephalogram (EEG) recordings. The predominant phenotype is intellectual disability ranging from mild to severe. It is often accompanied by motor, speech and/or language delay. Epilepsy is also frequent and manifests as generalized epilepsy with absences, drop attacks, or tonic-clonic seizures. A subset of affected individuals display cerebellar ataxia caused by cerebellar hypoplasia, predominantly affecting the vermis.
RORA