Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| 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
|
| 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
|
| notation | 615905
|
| 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]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 17p13-p12
|
| tui | T047
|
| cui | C4014621
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |