developmental and epileptic encephalopathy 80

Term ID

DOID:0112216

Synonyms

• DEE80
• early infantile epileptic encephalopathy 80
• glycosylphosphatidylinositol biosynthesis defect 20
• GPIBD20

Definition

A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. https://pubmed.ncbi.nlm.nih.gov/31256876/

References

• OMIM:618580

Ontology

Human Disease   ( DOID:0112216 )