|
General Information
|
| Term |
developmental and epileptic encephalopathy 67 |
ID (Ontology) |
DOID:0112203 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. |
| Also Known As |
"DEE67" ; "early infantile epileptic encephalopathy 67" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
developmental and epileptic encephalopathy 67 | 1 | for disease ribbon | developmental and epileptic encephalopathy 67 | 1 | model of | developmental and epileptic encephalopathy 67 | 1 |
|
Relationships