| Metadata | |
|---|---|
| ID | DOID:0080444 |
| Name | developmental and epileptic encephalopathy 27 |
| Definition | A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. https://www.ncbi.nlm.nih.gov/pubmed/24272827, https://www.ncbi.nlm.nih.gov/pubmed/28377535 |
| Xrefs | |
| Synonyms |
DEE27 [EXACT] early infantile epileptic encephalopathy 27 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |