Search Ontology:
Human Disease
autosomal recessive spinocerebellar ataxia 33
- Term ID
- DOID:0070414
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/27863452/
- References
- Ontology
- Human Disease ( DOID:0070414 )
- is a type of
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Genes Involved
Zebrafish Models