MCID: ERL023
MIFTS: 4

Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

MalaCards integrated aliases for Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation:

Name: Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation 60

Characteristics:

Orphanet epidemiological data:

60
early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 E72.1
Orphanet 60 ORPHA289266

Summaries for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

MalaCards based summary : Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation An important gene associated with Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A).

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Symptoms & Phenotypes for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

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Expression for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

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GO Terms for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

Sources for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

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75 UMLS via Orphanet
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