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developmental and epileptic encephalopathy 50
Summary
- Synonym
-
- CDG syndrome type Iz
- CDG-Iz
- Carbohydrate deficient glycoprotein syndrome type Iz
- Congenital disorder of glycosylation type 1z
- DEE50
- early infantile epileptic encephalopathy 50
- Definition
- A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080419
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P27708 | Multifunctional protein CAD |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001981 | Schistocytosis |
| HP:0002465 | Poor speech |
| HP:0001508 | Failure to thrive |
| HP:0003819 | Death in childhood |
| HP:0002133 | Status epilepticus |
