Term Name: | retinopathy sensory neuropathy syndrome |
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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 ) |