Search Ontology:
Human Disease
developmental and epileptic encephalopathy 2
- Term ID
- DOID:0080467
- Synonyms
-
- DEE2
- early infantile epileptic encephalopathy 2
- EIEE2
- X-linked infantile spasm syndrome 2
- Definition
- A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (2)
- References
- Ontology
- Human Disease ( DOID:0080467 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models