MCID: ERL023
MIFTS: 12

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 58

Characteristics:

Orphanet epidemiological data:

58
early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


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). Affiliated tissues include eye, and related phenotypes are behavioral abnormality and intellectual disability, severe

Related Diseases for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

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

Human phenotypes related to Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
2 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
3 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
4 profound global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012736
5 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
6 eeg with multifocal slow activity 58 31 frequent (33%) Frequent (79-30%) HP:0010844
7 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
8 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
9 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
10 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
11 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
12 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
13 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
14 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
15 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
16 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
17 postnatal microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0005484
18 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
19 abnormal myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012447
20 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
21 infantile axial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009062
22 abnormal involuntary eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0012547
23 congenital microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011451
24 stereotypical hand wringing 58 31 occasional (7.5%) Occasional (29-5%) HP:0012171
25 focal-onset seizure 31 occasional (7.5%) HP:0007359
26 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
27 generalized tonic seizure 31 occasional (7.5%) HP:0010818
28 epileptic spasm 31 occasional (7.5%) HP:0011097
29 generalized tonic-clonic seizures 58 Frequent (79-30%)
30 infantile muscular hypotonia 58 Frequent (79-30%)
31 febrile seizures 58 Occasional (29-5%)
32 generalized tonic seizures 58 Occasional (29-5%)
33 epileptic spasms 58 Occasional (29-5%)
34 focal seizures, afebril 58 Occasional (29-5%)

Drugs & Therapeutics for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

Search Clinical Trials , NIH Clinical Center for Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation

Genetic Tests for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

Anatomical Context for Early-Onset Epileptic Encephalopathy and Intellectual Disability...

MalaCards organs/tissues related to Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation:

40
Eye

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

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

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

Search GEO for disease gene expression data for Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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