Term Name: developmental and epileptic encephalopathy 82
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 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy