| Metadata | |
|---|---|
| ID | DOID:0080215 |
| Name | developmental and epileptic encephalopathy 8 |
| Definition | A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. https://www.ncbi.nlm.nih.gov/pubmed/15215304, https://www.ncbi.nlm.nih.gov/pubmed/21633362 |
| Xrefs | |
| Synonyms |
DEE8 [EXACT] early infantile epileptic encephalopathy 8 [EXACT] EIEE8 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |