Developmental And Epileptic Encephalopathy 67
Disease ID: disease_node_16185
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| Dbxref | MIM:618141 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE67, early infantile epileptic encephalopathy 67 |
| Doid Label | developmental and epileptic encephalopathy 67 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16185 |
| Doid Id | DOID_0112203 |
| Label | Developmental And Epileptic Encephalopathy 67 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)