| Metadata | |
|---|---|
| ID | DOID:0080442 |
| Name | developmental and epileptic encephalopathy 41 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654 |
| Xrefs | |
| Synonyms |
DEE41 [EXACT] early infantile epileptic encephalopathy 41 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |