| Term Name: | developmental and epileptic encephalopathy 105 |
|---|---|
| Synonyms: | DEE105, early infantile epileptic encephalopathy 105 |
| Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. |
| Ontology: | Human Disease [DOID:0070391] ( DOID:0070391 ) |