early infantile epileptic encephalopathy 13
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
EIEE13
|
| gptkbp:hasOrphanetID |
ORPHA:330050
|
| gptkbp:hasUMLS_CUI |
C3150402
|
| https://www.w3.org/2000/01/rdf-schema#label |
early infantile epileptic encephalopathy 13
|
| gptkbp:ICD-10_code |
G40.4
|
| gptkbp:inheritance |
autosomal dominant
de novo mutation possible |
| gptkbp:mutationAssociatedWith |
SCN8A gene
|
| gptkbp:OMIM |
614558
|
| gptkbp:onset |
infancy
|
| gptkbp:symptom |
intellectual disability
seizures developmental delay |
| gptkbp:bfsParent |
gptkb:SCN8A
|
| gptkbp:bfsLayer |
7
|