Autosomal Recessive Spinocerebellar Ataxia 28
Disease ID: disease_node_16028
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| Dbxref | MIM:618800 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR28 |
| Doid Label | autosomal recessive spinocerebellar ataxia 28 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. |
| Disease Node Id | disease_node_16028 |
| Doid Id | DOID_0070409 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 28 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)