developmental and epileptic encephalopathy 33

Term ID

DOID:0080463

Synonyms

• DEE33
• early infantile epileptic encephalopathy 33

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/23033978

References

• MIM:616409

Ontology

Human Disease   ( DOID:0080463 )