| Metadata | |
|---|---|
| ID | DOID:0051090 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051090 Copy |
| Name | developmental and epileptic encephalopathy 121 |
| Definition | A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. https://pubmed.ncbi.nlm.nih.gov/40455867/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance existence starts during some Neonatal onset |