Developmental And Epileptic Encephalopathy 23
Disease ID: disease_node_16190
Connections displayed (default: 10).
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| Dbxref | MIM:615859, ORDO:411986 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE23, Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome, Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome, early infantile epileptic encephalopathy 23 |
| Doid Label | developmental and epileptic encephalopathy 23 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16190 |
| Doid Id | DOID_0080415 |
| Label | Developmental And Epileptic Encephalopathy 23 |
- 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)