Developmental and epileptic encephalopathy 105 with hypopituitarism

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.

Also known as: DEE105, developmental and epileptic encephalopathy 105 with hypopituitarism

17 clinical trials for this condition and its sub-types, 0 tagged with Developmental and epileptic encephalopathy 105 with hypopituitarism itself.