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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
developmental and epileptic encephalopathy 21
Summary
- Synonym
-
- DEE21
- early infantile epileptic encephalopathy 21
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080443
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NY47 | Voltage-dependent calcium channel subunit alpha-2/delta-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002133 | Status epilepticus |
| HP:0002317 | Unsteady gait |
| HP:0002355 | Difficulty walking |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002509 | Limb hypertonia |
| HP:0002521 | Hypsarrhythmia |
| HP:0004305 | Involuntary movements |
| HP:0004322 | Short stature |
| HP:0007018 | Attention deficit hyperactivity disorder |
