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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617162
http://purl.bioontology.org/ontology/OMIM/617162
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EIEE46
DEE46
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EIEE46
DEE46
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46
|
| Gene Symbol |
DEE46
GRIN2D
NMDAR2D
|
| Scope Statement | Caused by mutation in the glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2D gene (GRIN2D, 602717.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.1-qter
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617162
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310687
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |