| Metadata | |
|---|---|
| ID | DOID:0080453 |
| Name | developmental and epileptic encephalopathy 25 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/27600704/, https://www.ncbi.nlm.nih.gov/pubmed/24995870 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DEE25 [EXACT] developmental and epileptic encephalopathy 25, with amelogenesis imperfecta [EXACT] early infantile epileptic encephalopathy 25 [EXACT] |
| Parent Relationships |