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developmental and epileptic encephalopathy 9
Summary
- Synonym
-
- DEE9
- EFMR
- EIEE9
- Juberg Hellman syndrome
- early infantile epileptic encephalopathy 9
- early infantile female-limited epilecptic encephalopathy
- female restricted epilepsy with mental retardation
- 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.
- Super Class
- X-linked dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0060848
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TAB3 | Protocadherin-19 |
