| Metadata | |
|---|---|
| ID | DOID:0051089 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051089 Copy |
| Name | developmental and epileptic encephalopathy 120 |
| Definition | A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/41133935/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal dominant inheritance |