Term Name: | autosomal recessive spinocerebellar ataxia 33 |
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Synonyms: | SCAR33 |
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. |
Ontology: | Human Disease [DOID:0070414] ( DOID:0070414 ) |