| Metadata | |
|---|---|
| ID | DOID:0060848 |
| Name | developmental and epileptic encephalopathy 9 |
| 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. https://pubmed.ncbi.nlm.nih.gov/20830798/, https://www.ncbi.nlm.nih.gov/pubmed/18469813, https://www.ncbi.nlm.nih.gov/pubmed/19752159 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DEE9 [EXACT] early infantile epileptic encephalopathy 9 [EXACT] early infantile female-limited epilecptic encephalopathy [EXACT] EFMR [EXACT] EIEE9 [EXACT] female restricted epilepsy with mental retardation [EXACT] Juberg Hellman syndrome [EXACT] |
| Parent Relationships |