| Metadata | |
|---|---|
| ID | DOID:0080349 |
| Name | developmental and epileptic encephalopathy 39 |
| Definition | A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. https://pubmed.ncbi.nlm.nih.gov/19641205/, https://pubmed.ncbi.nlm.nih.gov/24515575/, https://www.omim.org/entry/612949?search=612949 |
| Xrefs | |
| Alternateids |
DOID:0080423 |
| Subsets |
DO_rare_slim |
| Synonyms |
AGC1 deficiency [EXACT] early infantile epileptic encephalopathy 39 [EXACT] epileptic encephalopathy with global cerebral demyelination [EXACT] |
| Parent Relationships |