| Metadata | |
|---|---|
| ID | DOID:0080447 |
| Name | developmental and epileptic encephalopathy 43 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. https://pubmed.ncbi.nlm.nih.gov/27476654/, https://www.ncbi.nlm.nih.gov/pubmed/23934111 |
| Xrefs | |
| Synonyms |
DEE43 [EXACT] early infantile epileptic encephalopathy 43 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |