| Metadata | |
|---|---|
| ID | DOID:0070394 |
| Name | developmental and epileptic encephalopathy 108 |
| Definition | A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/35095415/, https://pubmed.ncbi.nlm.nih.gov/34185323/ |
| Xrefs | |
| Synonyms |
DEE108 [EXACT] early infantile epileptic encephalopathy 108 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |