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Flvcr1-Related Retinopathy With Or Without Ataxia (MONDO:0100449)

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

Overview

Category

Ontology ID

Internal:24176

Synonyms

FLVCR1 retinopathy with or without ataxia

AXPC1

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

Mapped terms

GARD:0026224

Child terms