| Metadata | |
|---|---|
| ID | DOID:0112216 |
| Name | developmental and epileptic encephalopathy 80 |
| 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/ |
| Xrefs | |
| Synonyms |
DEE80 [EXACT] early infantile epileptic encephalopathy 80 [EXACT] glycosylphosphatidylinositol biosynthesis defect 20 [EXACT] GPIBD20 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |