developmental and epileptic encephalopathy 82

Term ID

DOID:0080715

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. https://pubmed.ncbi.nlm.nih.gov/31422819/

References

• OMIM:618721

Ontology

Human Disease   ( DOID:0080715 )