| Metadata | |
|---|---|
| ID | DOID:0070386 |
| Name | developmental and epileptic encephalopathy 100 |
| Definition | A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/33280099/ |
| Xrefs | |
| Synonyms |
DEE100 [EXACT] early infantile epileptic encephalopathy 100 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |