developmental and epileptic encephalopathy 82 (DOID:0080715)
Alliance: disease page
Synonyms: DEE82; early infantile epileptic encephalopathy 82
Alt IDs: OMIM:618721
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.