Developmental And Epileptic Encephalopathy 73
Disease ID: disease_node_16179
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| Dbxref | MIM:618379 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE73, early infantile epileptic encephalopathy 73 |
| Doid Label | developmental and epileptic encephalopathy 73 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16179 |
| Doid Id | DOID_0112209 |
| Label | Developmental And Epileptic Encephalopathy 73 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)