Term Name: autosomal dominant sensory ataxia 1
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 )

Relationships
is a type of: autosomal dominant disease hereditary ataxia