developmental and epileptic encephalopathy 67

Term ID

DOID:0112203

Synonyms

• DEE67
• early infantile epileptic encephalopathy 67

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. https://pubmed.ncbi.nlm.nih.gov/29630738/

References

• OMIM:618141

Ontology

Human Disease   ( DOID:0112203 )