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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-06-2018
Location 15q22.2
Name neurodevelopmental delay with a cognitive and motor or cognitive and behavioral phenotype
Corresponding gene RORA
Main clinical features
  • 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
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease