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- Bf0c633c87a9cf17a630579a9280a8255 hasDbXref "Orphanet:497764" @default.
- Bf0c633c87a9cf17a630579a9280a8255 type Axiom @default.
- Bf0c633c87a9cf17a630579a9280a8255 annotatedProperty IAO_0000115 @default.
- Bf0c633c87a9cf17a630579a9280a8255 annotatedSource MONDO_0014867 @default.
- Bf0c633c87a9cf17a630579a9280a8255 annotatedTarget "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." @default.