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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618379
http://purl.bioontology.org/ontology/OMIM/618379
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 |
| Synonyms |
EIEE73
DEE73
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EIEE73
DEE73
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73
|
| Gene Symbol |
DEE73
RNF13
|
| Scope Statement | Caused by mutation in the ring finger protein 13 gene (RNF13, 609247.0001) [MOLECULAR BASIS]
Three unrelated patients have been reported (last curated November 2020) [MISCELLANEOUS]
Onset in the first months of life [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 3q25.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618379
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193065
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |