| Metadata | |
|---|---|
| ID | DOID:0080454 |
| Name | developmental and epileptic encephalopathy 42 |
| Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654 |
| Xrefs | |
| Synonyms |
DEE42 [EXACT] early infantile epileptic encephalopathy 42 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |