Search Ontology:
Human Disease
developmental and epileptic encephalopathy 50
- Term ID
- DOID:0080419
- Synonyms
-
- Carbohydrate deficient glycoprotein syndrome type Iz
- CDG syndrome type Iz
- CDG-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. https://www.ncbi.nlm.nih.gov/pubmed/28007989
- References
-
- GARD:13621
- MIM:616457
- ORDO:448010
- Ontology
- Human Disease ( DOID:0080419 )
- is a type of
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Genes Involved
Zebrafish Models