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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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002376 | Developmental regression |
| HP:0001947 | Renal tubular acidosis |
| HP:0012345 | Abnormal glycosylation |
| HP:0001263 | Global developmental delay |
| HP:0003676 | Progressive |
| HP:0002015 | Dysphagia |
| HP:0001250 | Seizure |
| HP:0003218 | Oroticaciduria |
| HP:0001987 | Hyperammonemia |
| HP:0004823 | Anisopoikilocytosis |
