developmental and epileptic encephalopathy 94

Term ID

DOID:0081325

Synonyms

Definition

A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. https://pubmed.ncbi.nlm.nih.gov/23708187/

References

• OMIM:615369

Ontology

Human Disease   ( DOID:0081325 )