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 99
Summary
- Synonym
-
- DEE99
- early infantile epileptic encephalopathy 99
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070385
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001298 | Encephalopathy |
| HP:0002063 | Rigidity |
| HP:0001265 | Hyporeflexia |
| HP:0001508 | Failure to thrive |
| HP:0011443 | Abnormality of coordination |
| HP:0004305 | Involuntary movements |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
| HP:0100710 | Impulsivity |
