Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
developmental and epileptic encephalopathy 65
Summary
- Synonym
-
- DEE65
- early infantile epileptic encephalopathy 65
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080430
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0002355 | Difficulty walking |
| HP:0001337 | Tremor |
| HP:0001257 | Spasticity |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002317 | Unsteady gait |
| HP:0001336 | Myoclonus |
| HP:0002376 | Developmental regression |
