Term Name: | developmental and epileptic encephalopathy 105 |
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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 ) |