Term Name: autosomal recessive spinocerebellar ataxia 33
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 )

Relationships
is a type of: autosomal recessive cerebellar ataxia