| Metadata | |
|---|---|
| ID | DOID:0080285 |
| Name | developmental and epileptic encephalopathy 58 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/29100083 |
| Xrefs | |
| Synonyms |
DEE58 [EXACT] early infantile epileptic encephalopathy 58 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |