has material basis in germline mutation in THG1L autosomal recessive cerebellar ataxia spinocerebellar ataxia, autosomal recessive 28 https://github.com/monarch-initiative/mondo/issues/10172 https://github.com/monarch-initiative/mondo/issues/8747 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_28 GARD:0025776 DOID:0070409 THG1L-related autosomal recessive congenital cerebellar ataxia SCAR28 MEDGEN:1712568 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. UMLS:C5394101 MONDO:0032923 OMIM:618800 THG1L-related disorder