| Metadata | |
|---|---|
| ID | DOID:0080283 |
| Name | developmental and epileptic encephalopathy 55 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/32042915/, https://www.ncbi.nlm.nih.gov/pubmed/28334793 |
| Xrefs | |
| Synonyms |
DEE55 [EXACT] early infantile epileptic encephalopathy 55 [EXACT] glycosylphosphatidylinositol biosynthesis defect 14 [EXACT] GPIBD14 [EXACT] |
| Parent Relationships |