| Metadata | |
|---|---|
| ID | DOID:0080438 |
| Name | developmental and epileptic encephalopathy 5 |
| Definition | A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20493457 |
| Xrefs | |
| Synonyms |
DEE5 [EXACT] early infantile epileptic encephalopathy 5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |