Term Name: developmental and epileptic encephalopathy 80
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.
Ontology: Human Disease [DOID:0112216]   ( DOID:0112216 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy