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 59

Characteristics:

Orphanet epidemiological data:

59
early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA289266
ICD10 via Orphanet 34 E72.1

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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17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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