autosomal dominant sensory ataxia 1

Term ID

DOID:0111170

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. https://www.ncbi.nlm.nih.gov/pubmed/15286160

References

• MIM:608984

Ontology

Human Disease   ( DOID:0111170 )