Search Ontology:
Human Disease
developmental and epileptic encephalopathy 116
- Term ID
- DOID:0070545
- Synonyms
-
- DEE116
- Definition
- A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/38579670/
- References
- Ontology
- Human Disease ( DOID:0070545 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models