developmental and epileptic encephalopathy 105 (DOID:0070391)
Alliance: disease page
Synonyms: DEE105; early infantile epileptic encephalopathy 105
Alt IDs: OMIM:619983
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.