syndromic intellectual disability early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9063 https://www.malacards.org/card/early_onset_epileptic_encephalopathy_and_intellectual_disability_due_to_grin2a_mutation GARD:0021134 Orphanet:289266 MEDGEN:1663334 epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:613971 A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is 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. icd11.foundation:1655554340 OMIM:245570 MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation UMLS:C4749281 childhood-onset epilepsy syndrome GRIN2A-related complex neurodevelopmental disorder