early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0020072
childhood-onset epilepsy syndrome
is_a
MONDO:1060139
GRIN2A-related complex neurodevelopmental disorder
is_a
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
exact
epilepsy, focal, with speech disorder and with or without impaired intellectual development
exact