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

Rare Disease

MONDO:0017325

Also known as:

early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationepilepsy, focal, with speech disorder and with or without impaired intellectual development

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 u...

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