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autosomal recessive spinocerebellar ataxia 28
Summary
- Synonym
-
- SCAR28
- Definition
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0070409
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NWX6 | Probable tRNA(His) guanylyltransferase |
