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

• OMIM:620208

Ontology

Human Disease   ( DOID:0070414 )