| Metadata | |
|---|---|
| ID | DOID:0112218 |
| Name | developmental and epileptic encephalopathy 83 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31820119/ |
| Xrefs | |
| Synonyms |
DEE83 [EXACT] early infantile epileptic encephalopathy 83 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |