Autosomal Recessive Spinocerebellar Ataxia 33
Disease ID: disease_node_16023
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| Dbxref | MIM:620208 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR33 |
| Doid Label | autosomal recessive spinocerebellar ataxia 33 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. |
| Disease Node Id | disease_node_16023 |
| Doid Id | DOID_0070414 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 33 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)