| Metadata | |
|---|---|
| ID | DOID:0070390 |
| Name | developmental and epileptic encephalopathy 104 |
| Definition | A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/34909687/ |
| Xrefs | |
| Synonyms |
DEE104 [EXACT] early infantile epileptic encephalopathy 104 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |