Autosomal Recessive Spinocerebellar Ataxia 12
Disease ID: disease_node_16035
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| Dbxref | MIM:614322 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR12 |
| Doid Label | autosomal recessive spinocerebellar ataxia 12 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. |
| Disease Node Id | disease_node_16035 |
| Doid Id | DOID_0080060 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)