Term Name: retinopathy sensory neuropathy syndrome
Synonyms: Posterior Column Ataxia with Retinitis Pigmentosa
Definition: A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.
Ontology: Human Disease [DOID:0061157]   ( DOID:0061157 )

Relationships
is a type of: autosomal recessive disease syndrome