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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615905
http://purl.bioontology.org/ontology/OMIM/615905
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA |
| Synonyms |
DEE25
EIEE25
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEE25
EIEE25
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA
|
| Gene Symbol |
SLC13A5
NACT
DEE25
|
| Scope Statement | Caused by mutation in the solute carrier family 13 (sodium-dependent citrate transporter), member 5 gene (SLC13A5, 608305.0001) [MOLECULAR BASIS]
Seizure severity and frequency tend to improve with age [MISCELLANEOUS]
Seizures are poorly responsive to treatment [MISCELLANEOUS]
Onset in the first hours or days of life [MISCELLANEOUS]
Ketogenic diet may be effective [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 17p13-p12
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615905
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4014621
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| 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 |