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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301058
http://purl.bioontology.org/ontology/OMIM/301058
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 |
| Synonyms |
DEE90
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEE90
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
|
| Gene Symbol |
FGF2
XLID110
DEE90
FGF13
|
| Scope Statement | Both males and females can be affected [MISCELLANEOUS]
Onset of seizures in the first days or months of life [MISCELLANEOUS]
De novo mutation (in some patients) [MISCELLANEOUS]
Caused by mutation in the fibroblast growth factor 13 gene (FGF13, 300070.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq26.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301058
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5542345
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |