Developmental And Epileptic Encephalopathy 31B
Disease ID: disease_node_16262
Connections displayed (default: 10).
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| Dbxref | MIM:620352 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE31B |
| Doid Label | developmental and epileptic encephalopathy 31B |
| Doid Description | A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16262 |
| Doid Id | DOID_0070376 |
| Label | Developmental And Epileptic Encephalopathy 31B |
- 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)