Developmental And Epileptic Encephalopathy 87
Disease ID: disease_node_16168
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| Dbxref | MIM:618916 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE87, early infantile epileptic encephalopathy 87 |
| Doid Label | developmental and epileptic encephalopathy 87 |
| Doid Description | A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16168 |
| Doid Id | DOID_0112221 |
| Label | Developmental And Epileptic Encephalopathy 87 |
- 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)