developmental and epileptic encephalopathy 105

Term ID

DOID:0070391

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. https://pubmed.ncbi.nlm.nih.gov/33999436/

References

• MIM:619983

Ontology

Human Disease   ( DOID:0070391 )