| Term Name: | developmental and epileptic encephalopathy 120 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0051089] ( DOID:0051089 ) |