FLVCR1 retinopathy with or without ataxia
Go to external page http://purl.obolibrary.org/obo/MONDO_0100449
A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene. [ https://clinicalgenome.org/affiliation/40072/ ]
Synonyms: FLVCR1 retinopathy with or without ataxia FLVCR1-related retinopathy with or without ataxia
Term information
rare, nord_rare, clingen
posterior column ataxia-retinitis pigmentosa syndrome
autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
AXPC1
posterior column ataxia with retinitis pigmentosa
ataxia, posterior column, with retinitis pigmentosa