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.
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE105
exact
developmental and epileptic encephalopathy 105 with hypopituitarism
exact
SPAC17A5.16 SPAP27G11.12 SPBP19A11.07c