FLVCR1-related retinopathy with or without ataxia
A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
MONDO:0019118
inherited retinal dystrophy
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MONDO:0020046
autosomal recessive degenerative and progressive cerebellar ataxia
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AXPC1
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FLVCR1 retinopathy with or without ataxia
exact
PCARP
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ataxia, posterior column, with retinitis pigmentosa
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autosomal recessive posterior column ataxia and retinitis pigmentosa
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posterior column ataxia with retinitis pigmentosa
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posterior column ataxia-retinitis pigmentosa syndrome
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