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FLVCR1-related retinopathy with or without ataxia

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.

Synonyms

  • AXPC1
  • FLVCR1 retinopathy with or without ataxia
  • PCARP
  • ataxia, posterior column, with retinitis pigmentosa
  • autosomal recessive posterior column ataxia and retinitis pigmentosa
  • posterior column ataxia with retinitis pigmentosa
  • posterior column ataxia-retinitis pigmentosa syndrome
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