Developmental And Epileptic Encephalopathy 107
Disease ID: disease_node_16245
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:620033 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE107, early infantile epileptic encephalopathy 107 |
| Doid Label | developmental and epileptic encephalopathy 107 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16245 |
| Doid Id | DOID_0070393 |
| Label | Developmental And Epileptic Encephalopathy 107 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)