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.

Also known as: 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

63 clinical trials for this condition and its sub-types.

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