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 12
Summary
- Synonym
-
- DEE12
- early infantile epileptic encephalopathy 12
- Definition
- A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080459
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006813 | Focal hemiclonic seizure |
| HP:0000252 | Microcephaly |
| HP:0004302 | Functional motor deficit |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0001252 | Hypotonia |
| HP:0002376 | Developmental regression |
| HP:0100543 | Cognitive impairment |
| HP:0002521 | Hypsarrhythmia |
| HP:0001508 | Failure to thrive |
