Search Ontology:
Human Disease
developmental and epileptic encephalopathy 102
- Term ID
- DOID:0070388
- Synonyms
-
- DEE102
- early infantile epileptic encephalopathy 102
- Definition
- A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. https://pubmed.ncbi.nlm.nih.gov/34605855/
- References
- Ontology
- Human Disease ( DOID:0070388 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models