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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:0001903 | Anemia |
| HP:0002136 | Broad-based gait |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002014 | Diarrhea |
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
| HP:0011463 | Childhood onset |
| HP:0001927 | Acanthocytosis |
| HP:0002283 | Global brain atrophy |
| HP:0200134 | Epileptic encephalopathy |
