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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617830
http://purl.bioontology.org/ontology/OMIM/617830
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 |
| Synonyms |
DEE58
EIEE58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEE58
EIEE58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58
|
| Gene Symbol |
OBHD
NTRK2
DEE58
TRKB
|
| Scope Statement | Onset of seizures in the first days or months of life [MISCELLANEOUS]
Four unrelated patients have been reported (last curated January 2018) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the neurotrophic tyrosine kinase, receptor, type 2 gene NTRK2 gene (600456.0003) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 9q21.33
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 617830
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4693367
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |