| Metadata | |
|---|---|
| ID | DOID:0080467 |
| Name | developmental and epileptic encephalopathy 2 |
| Definition | A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/15492925, https://www.ncbi.nlm.nih.gov/pubmed/22872100 |
| Xrefs | |
| Synonyms |
DEE2 [EXACT] early infantile epileptic encephalopathy 2 [EXACT] EIEE2 [EXACT] X-linked infantile spasm syndrome 2 [EXACT] |
| Parent Relationships |