Main clinical features
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neurodevelopmental delay with at least two different presentations: (1) a cognitive and motor phenotype and (2) a cognitive and behavioral phenotype
mild or moderate to severe mental retardation
developmental milestones were also delayed with a mean age of walking delayed
speech delay and/or poor verbal communication abilities
seizure semiology was that of a generalized epilepsy with absences, drop attacks, and tonic-clonic seizure sub-types
also autism spectrum disorder with mild ID or normal cognition frequently associated with epilepsy
at brain MRI, in any cases, cerebellar hypoplasia, which predominantly affected the vermis , and these individuals developed early-onset ataxia and hypotonia |