Search Ontology:
Human Disease

autosomal recessive spinocerebellar ataxia 33

Term ID
DOID:0070414
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. https://pubmed.ncbi.nlm.nih.gov/27863452/
References
Ontology
Human Disease   ( DOID:0070414 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models