Developmental And Epileptic Encephalopathy 55
Disease ID: disease_node_16240
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617599 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE55, GPIBD14, early infantile epileptic encephalopathy 55, glycosylphosphatidylinositol biosynthesis defect 14 |
| Doid Label | developmental and epileptic encephalopathy 55 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16240 |
| Doid Id | DOID_0080283 |
| Label | Developmental And Epileptic Encephalopathy 55 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)