Disease association ontology term - MONDO:0031028 - developmental and epileptic encephalopathy 105 with hypopituitarism
Term summary
- ID
- MONDO:0031028
- Name
- developmental and epileptic encephalopathy 105 with hypopituitarism
- Ontology or CV name
- Disease association
- 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.
