developmental and epileptic encephalopathy 72

Term ID

DOID:0112208

Synonyms

• DEE72
• early infantile epileptic encephalopathy 72

Definition

A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/30323019/

References

• OMIM:618374

Ontology

Human Disease   ( DOID:0112208 )