Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Go to external page 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.

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266
hasDbXref
  • OMIM:613971
  • ICD-10:E72.1
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:289266
part of
  • http://www.orpha.net/ORDO/Orphanet_98259
  • http://www.orpha.net/ORDO/Orphanet_611314
present in
  • http://www.orpha.net/ORDO/Orphanet_409991