| Metadata | |
|---|---|
| ID | DOID:0080715 |
| Name | developmental and epileptic encephalopathy 82 |
| Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/31422819/ |
| Xrefs | |
| Synonyms |
DEE82 [EXACT] early infantile epileptic encephalopathy 82 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |