autosomal recessive spinocerebellar ataxia 33 (DOID:0070414)
Alliance: disease page
Synonyms: SCAR33
Alt IDs: OMIM:620208
Definition: An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13.