A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
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Concept Alternate Designations
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3700827018
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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3700829015
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation
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false
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3700830013
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation