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Disease Ontology Browser
developmental and epileptic encephalopathy 50 (DOID:0080419)
Alliance: disease page
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'
Alt IDs: OMIM:616457, ORDO:448010
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory