developmental and epileptic encephalopathy 65

Term ID

DOID:0080430

Synonyms

• DEE65
• early infantile epileptic encephalopathy 65

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. https://www.ncbi.nlm.nih.gov/pubmed/29534297

References

• OMIM:618008

Ontology

Human Disease   ( DOID:0080430 )