OntologiesordoclassesOrphanet:289266   
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Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
http://www.orpha.net/ORDO/Orphanet_289266

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.

Also appears inprideefo
    class Information
    definition_citation

    Orphanet

    has_age_of_onset

    Childhood

    has_dbxref
    has_inheritance

    Autosomal dominant

    notation

    ORPHA:289266

    present_in

    Worldwide AND has_point_prevalence_range : Unknown

    class Relations