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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:0011344 | Severe global developmental delay |
| HP:0011968 | Feeding difficulties |
| HP:0012171 | Stereotypical hand wringing |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012469 | Infantile spasms |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0012760 | Reduced social reciprocity |
| HP:0100022 | Abnormality of movement |
| HP:0100703 | Tongue thrusting |
| HP:0200055 | Small hand |
| 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 |
