developmental and epileptic encephalopathy 66

Term ID

DOID:0080446

Synonyms

• DEE66
• early infantile epileptic encephalopathy 66

Definition

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/29656858

References

• OMIM:618067

Ontology

Human Disease   ( DOID:0080446 )