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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:0010844 | EEG with multifocal slow activity |
| HP:0011443 | Abnormality of coordination |
| HP:0011968 | Feeding difficulties |
| HP:0012444 | Brain atrophy |
| HP:0012447 | Abnormal myelination |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0100660 | Dyskinesia |
| HP:0100710 | Impulsivity |
