| Term Name: | autosomal recessive spinocerebellar ataxia 28 |
|---|---|
| Synonyms: | 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. |
| Ontology: | Human Disease [DOID:0070409] ( DOID:0070409 ) |