autosomal recessive spinocerebellar ataxia 28 (DOID:0070409)
Alliance: disease page
Synonyms: SCAR28
Alt IDs: OMIM:618800
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.