Spinocerebellar ataxia, autosomal recessive 28

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a variation in the THG1L gene, characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria. Affected individuals may have features of spasticity and may show mildly impaired cognitive function. Brain imaging shows cerebellar vermis hypoplasia.