| Metadata | |
|---|---|
| ID | DOID:0080437 |
| Name | developmental and epileptic encephalopathy 31A |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/25262651, https://pubmed.ncbi.nlm.nih.gov/25533962/ |
| Xrefs | |
| Synonyms |
DEE31 [EXACT] DEE31A [EXACT] developmental and epileptic encephalopathy 31 [EXACT] early infantile epileptic encephalopathy 31 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |