Developmental And Epileptic Encephalopathy 76
Disease ID: disease_node_16176
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618468 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DECAM, DEE76, developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination, early infantile epileptic encephalopathy 76 |
| Doid Label | developmental and epileptic encephalopathy 76 |
| Doid Description | A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16176 |
| Doid Id | DOID_0112212 |
| Label | Developmental And Epileptic Encephalopathy 76 |
- 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)