Term Name: | developmental and epileptic encephalopathy 82 |
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Synonyms: | DEE82, early infantile 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. |
Ontology: | Human Disease [DOID:0080715] ( DOID:0080715 ) |