Term Name: | autosomal recessive spinocerebellar ataxia 28 |
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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 ) |