| Metadata | |
|---|---|
| ID | DOID:0080427 |
| Name | developmental and epileptic encephalopathy 40 |
| Definition | A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. https://www.ncbi.nlm.nih.gov/pubmed/26486472 |
| Xrefs | |
| Synonyms |
DEE40 [EXACT] early infantile epileptic encephalopathy 40 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |