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developmental and epileptic encephalopathy 2
Summary
- Synonym
-
- DEE2
- EIEE2
- X-linked infantile spasm syndrome 2
- early infantile epileptic encephalopathy 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.
- Super Class
- X-linked dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080467
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P49419 | Alpha-aminoadipic semialdehyde dehydrogenase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000713 | Agitation |
| HP:0000723 | Restrictive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000748 | Inappropriate laughter |
| HP:0000817 | Reduced eye contact |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
| 23236 | PLCB1 | phospholipase C beta 1 |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
| 22854 | NTNG1 | netrin G1 |
