Term Name: | autosomal dominant sensory ataxia 1 |
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Synonyms: | ADSA, SNAX1 |
Definition: | A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. |
Ontology: | Human Disease [DOID:0111170] ( DOID:0111170 ) |