| Metadata | |
|---|---|
| ID | DOID:0080419 |
| Name | developmental and 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type Iz [EXACT] CDG syndrome type Iz [EXACT] CDG-Iz [EXACT] Congenital disorder of glycosylation type 1z [EXACT] DEE50 [EXACT] early infantile epileptic encephalopathy 50 [EXACT] |
| Parent Relationships |