Search Ontology:
Human Disease
developmental and epileptic encephalopathy 9
- Term ID
- DOID:0060848
- Synonyms
-
- DEE9
- early infantile epileptic encephalopathy 9
- early infantile female-limited epilecptic encephalopathy
- EFMR
- EIEE9
- female restricted epilepsy with mental retardation
- Juberg Hellman syndrome
- Definition
- A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (3)
- References
-
- GARD:10806
- MIM:300088
- ORDO:101039
- Ontology
- Human Disease ( DOID:0060848 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models