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

Orpha code: 289266OMIM code: 245570

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
289266
Kod OMIM
245570
Kod ICD10
E72.1
Kod ICD11
-

No additional description.

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