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 47
Summary
- Synonym
-
- DEE47
- early infantile epileptic encephalopathy 47
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080425
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0001251 | Ataxia |
| HP:0000639 | Nystagmus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000717 | Autism |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002133 | Status epilepticus |
| HP:0001268 | Mental deterioration |
| HP:0001558 | Decreased fetal movement |
| HP:0001263 | Global developmental delay |
