developmental and epileptic encephalopathy 40

Term ID

DOID:0080427

Synonyms

• DEE40
• early infantile epileptic encephalopathy 40

Definition

A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. https://www.ncbi.nlm.nih.gov/pubmed/26486472

References

• OMIM:617065

Ontology

Human Disease   ( DOID:0080427 )